Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build International flag

Molecular Definition Implementation Guide for Molecular Data Types, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 1.0.0-ballot1 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/molecular-definition-data-types/ and changes regularly. See the Directory of published versions

Example MolecularDefinition: example-allelesliced-cyp2c19-661g-coded

Profile: Allele

moleculeType: RNA Sequence

type: RNA Sequence

location

sequenceLocation

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

coordinateInterval

CoordinateSystems

-SystemOriginNormalizationMethod
*1-based character countingSequence startLeft shift

start: 661

end: 661

strand: Forward strand

representation

focus: Allele State

code: CYP2C19*1.002

Literals

-Value
*G

representation

focus: Context State

Literals

-Value
*G