NHS North West Genomics
0.0.8 - ci-build United Kingdom flag

NHS North West Genomics - Local Development build (v0.0.8) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Example Bundle: Bundle - Genomic Variant Gene = NTHL1 QEDm

Bundle 41a20f74-643f-4073-968a-ee003160734f of type searchset

Entry 1 - fullUrl = http://example.org/fhir/Observation/8385c2fd-313d-4fd5-b98e-d5ea4bae6f99

Search:Mode = match

Resource Observation:

identifier: 8385c2fd-313d-4fd5-b98e-d5ea4bae6f99

status: Final

category: Genetics, Laboratory

code: Genetic variant assessment

subject: Paul LIVERPOOL

effective: 2025-10-23 10:37:26+0000

performer: PractitionerRole

method: Sequencing

component

code: Gene studied [ID]

value: NTHL1

component

code: Transcript reference sequence [ID]

value: NM_000249

component

code: Genomic DNA change (gHGVS)

value: NC_000003.11

component

code: Genomic reference sequence [ID]

value: NG_007109.2:g.40514dupC

component

code: DNA change type

value: Duplication

component

code: Genomic source class

value: Germline

component

code: Allelic state

value: Heterozygous

component

code: Genomic ref allele

value: C