Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build
Molecular Definition Implementation Guide for Molecular Data Types
1.0.0-ballot1 - ci-build
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
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 Origin NormalizationMethod 0-based interval counting Sequence start Left shift start: 87531302
representation
focus: Reference State
Literals
Encoding Value Nucleotide DNA 1-letter Unambiguous Symbols A
representation
focus: Alternative State
Literals
Encoding Value Nucleotide DNA 1-letter Unambiguous Symbols C
representation
focus: Context State
Literals
Encoding Value Nucleotide DNA 1-letter Unambiguous Symbols T