{
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  "language" : "en",
  "type" : "searchset",
  "total" : 1,
  "link" : [{
    "relation" : "self",
    "url" : "https://example.nhs.uk/FHIR/R4/Observation?combo-code=http://loinc.org|48018-6&combo-value-concept=HGNC:8028"
  }],
  "entry" : [{
    "fullUrl" : "http://example.org/fhir/Observation/8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
    "resource" : {
      "resourceType" : "Observation",
      "id" : "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99",
      "meta" : {
        "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/Variant"]
      },
      "language" : "en",
      "text" : {
        "status" : "generated",
        "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><a name=\"Observation_8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><p class=\"res-header-id\"><b>Generated Narrative: Observation 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</b></p><a name=\"8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><a name=\"hc8385c2fd-313d-4fd5-b98e-d5ea4bae6f99\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-Variant.html\">Variant (Observation)</a></p></div><p><b>identifier</b>: 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99</p><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle.html#urn-uuid-d6faafcf-db64-4c11-9da8-25f36774c1bd\">Ned LIVERPOOL</a></p><p><b>effective</b>: 2025-10-23 10:37:26+0000</p><p><b>performer</b>: <a href=\"Bundle-FHIRDocumentGeneticReportBundle2.html#urn-uuid-59577028-8fcc-4554-8b43-988561d41d9c\">PractitionerRole</a></p><p><b>method</b>: <span title=\"Codes:{http://snomed.info/sct 264896000}\">Nucleic acid analysis</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org HGNC:89753}\">NTHL1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NM_000249}\">NM_000249</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48013-7}\">Genomic reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/refseq NG_007109.2:g.40514dupC}\">NG_007109.2:g.40514dupC</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6686-5}\">Duplication</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6683-2}\">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 53034-5}\">Allelic state</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6706-1}\">Heterozygous</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69547-8}\">Genomic ref allele [ID]</span></p><p><b>value</b>: C</p></blockquote></div>"
      },
      "identifier" : [{
        "value" : "8385c2fd-313d-4fd5-b98e-d5ea4bae6f99"
      }],
      "status" : "final",
      "category" : [{
        "coding" : [{
          "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code" : "GE",
          "display" : "Genetics"
        }]
      }],
      "code" : {
        "coding" : [{
          "system" : "http://loinc.org",
          "code" : "69548-6",
          "display" : "Genetic variant assessment"
        }]
      },
      "subject" : {
        "reference" : "urn:uuid:d6faafcf-db64-4c11-9da8-25f36774c1bd",
        "display" : "Ned LIVERPOOL"
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      "effectiveDateTime" : "2025-10-23T10:37:26+00:00",
      "performer" : [{
        "reference" : "urn:uuid:59577028-8fcc-4554-8b43-988561d41d9c"
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      "method" : {
        "coding" : [{
          "system" : "http://snomed.info/sct",
          "code" : "264896000",
          "display" : "Nucleic acid analysis"
        }]
      },
      "component" : [{
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          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48018-6",
            "display" : "Gene studied [ID]"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://www.genenames.org",
            "code" : "HGNC:89753",
            "display" : "NTHL1"
          }]
        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "51958-7",
            "display" : "Transcript reference sequence [ID]"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://www.ncbi.nlm.nih.gov/refseq",
            "code" : "NM_000249"
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        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48013-7",
            "display" : "Genomic reference sequence [ID]"
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        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://www.ncbi.nlm.nih.gov/refseq",
            "code" : "NG_007109.2:g.40514dupC"
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        }
      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48019-4",
            "display" : "DNA change type"
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        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA6686-5",
            "display" : "Duplication"
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      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "48002-0",
            "display" : "Genomic source class"
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        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA6683-2",
            "display" : "Germline"
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      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "53034-5",
            "display" : "Allelic state"
          }]
        },
        "valueCodeableConcept" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "LA6706-1",
            "display" : "Heterozygous"
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      },
      {
        "code" : {
          "coding" : [{
            "system" : "http://loinc.org",
            "code" : "69547-8",
            "display" : "Genomic ref allele [ID]"
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        },
        "valueString" : "C"
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    "search" : {
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}