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-variation-tri-allelic-ABCB1

Profile: Variation

moleculeType: DNA Sequence

type: DNA Sequence

location

sequenceLocation

sequenceContext: Homo sapiens chromosome 7, GRCh38.p14 Primary Assembly, NC_000007.14

coordinateInterval

CoordinateSystems

-System
*0-based interval counting

start: 87531302

representation

focus: Reference State

Literals

-Value
*A

representation

focus: Alternative State

Literals

-Value
*C

representation

focus: Context State

Literals

-Value
*T