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

NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

Example Observation: Variant - NTHL1

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