Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build International flag

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 PGx Variant 1015

Language: en

moleculeType: DNA sequence

location

sequenceLocation

sequenceContext: Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10

coordinateInterval

CoordinateSystems

-System
*1-based character counting

start: 96535210

end: 96535210

representation

focus: Reference State

Literals

-Value
*G

representation

focus: Alternative State

code: NC_000010.10:g.96540410G>A

Literals

-Value
*A