Clinical Genomics Resource Incubator
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Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

Example MolecularDefinition: Molecular Definition Variation CYP2C19 991 HGVS

Language: en

moleculeType: DNA sequence

location

sequenceLocation

sequenceContext: Starting Sequence Resource: (CYP2C19), mRNA, NM_000769.4

coordinateInterval

CoordinateSystems

-System
*0-based interval counting

start: 1015

end: 1016

representation

focus: Reference State

code: NM_000769.4:c.991A>G

Literals

-Value
*A

representation

focus: Alternative State

code: NM_000769.4:c.991A>G

Literals

-Value
*G