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

NHS North West Genomics - Local Development build (v2.1.4) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

Example Observation: Variant - NTHL1

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

status: Final

category: Genetics

code: Genetic variant assessment

subject: Ned LIVERPOOL

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

performer: PractitionerRole

method: Nucleic acid analysis

component

code: Gene studied [ID]

value: NTHL1

component

code: Transcript reference sequence [ID]

value: NM_000249

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 [ID]

value: C