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

Table of Contents

Page standards status: Informative
.. 0 Table of Contents
... 1 Home
... 2 Motivation
... 3 Terminology
... 4 Use Cases
... 5 Artifacts Summary
.... 5.1 Allele
.... 5.2 Genotype
.... 5.3 Haplotype
.... 5.4 Sequence
.... 5.5 Variation
.... 5.6 Amino Acid 1-letter Ambiguous Symbols ValueSet
.... 5.7 Amino Acid 1-letter Unambiguous Symbols ValueSet
.... 5.8 Amino Acid 3-letter Ambiguous Symbols ValueSet
.... 5.9 Amino Acid 3-letter Unambiguous Symbols ValueSet
.... 5.10 Coordinate Origin ValueSet
.... 5.11 Molecular Definition Encodings ValueSet
.... 5.12 Molecular Definition Focus ValueSet
.... 5.13 Molecule Type ValueSet
.... 5.14 Normalization Method ValueSet
.... 5.15 Nucleotide DNA 1-letter Ambiguous Symbols ValueSet
.... 5.16 Nucleotide DNA 1-letter Unambiguous Symbols Including N ValueSet
.... 5.17 Nucleotide DNA 1-letter Unambiguous Symbols ValueSet
.... 5.18 Nucleotide RNA 1-letter Unambiguous Symbols ValueSet
.... 5.19 Strand Orientation ValueSet
.... 5.20 Topology ValueSet
.... 5.21 Amino Acid Symbols
.... 5.22 Coordinate Origin
.... 5.23 Encodings
.... 5.24 Molecular Definition Focus
.... 5.25 Molecule Type
.... 5.26 Normalization Method
.... 5.27 Nucleotide DNA Symbols
.... 5.28 Nucleotide RNA Symbols
.... 5.29 Strand Orientation
.... 5.30 Topology
.... 5.31 example-allelesliced-cyp2c19-1016-cont
.... 5.32 example-allelesliced-cyp2c19-1016g
.... 5.33 example-allelesliced-cyp2c19-1b-1016g
.... 5.34 example-allelesliced-cyp2c19-1b-124t
.... 5.35 example-allelesliced-cyp2c19-661a
.... 5.36 example-allelesliced-cyp2c19-661g
.... 5.37 example-allelesliced-cyp2c19-661g-coded
.... 5.38 example-allelesliced-hla-121-a
.... 5.39 example-allelesliced-hla-121-c
.... 5.40 example-allelesliced-hla-123-c
.... 5.41 example-allelesliced-hla-123-t
.... 5.42 example-allelesliced-hla-126-a
.... 5.43 example-allelesliced-hla-126-g
.... 5.44 example-allelesliced-hla-144-a
.... 5.45 example-allelesliced-hla-144-a-coded
.... 5.46 example-allelesliced-hla-144-c
.... 5.47 example-allelesliced-hla-98-c
.... 5.48 example-allelesliced-hla-98-t
.... 5.49 example-genomic-cyp2c19-accession
.... 5.50 example-genomicfile-af1961831-url
.... 5.51 example-genomicfile-cyp2c19-accession
.... 5.52 example-genomicfile-cyp2c19-attached
.... 5.53 example-genomicfile-cyp2c19-url
.... 5.54 example-genomicfile-hla00001
.... 5.55 example-genomicfile-mw7162561
.... 5.56 example-genomicfile-nc00000714-url
.... 5.57 example-genomicfile-nc00001010-url
.... 5.58 example-genomicfile-ng0083843
.... 5.59 example-genomicfile-nm0002513
.... 5.60 example-genomicfile-nm0007694
.... 5.61 example-genomicfile-nm0020245
.... 5.62 example-genotype-cyp2c19-1002-and-3
.... 5.63 example-genotype-cyp2c19-1b-and-1c
.... 5.64 example-genotype-hla-00001-and-2
.... 5.65 example-haplotype-cyp2c19-1002
.... 5.66 example-haplotype-cyp2c19-1b
.... 5.67 example-haplotype-cyp2c19-1c
.... 5.68 example-haplotype-cyp2c19-3002
.... 5.69 example-haplotype-hla-00001
.... 5.70 example-haplotype-hla-00002
.... 5.71 example-sequence-a-aa-iupac
.... 5.72 example-sequence-a-dna-iupac
.... 5.73 example-sequence-c-dna-iupac
.... 5.74 example-sequence-cgg
.... 5.75 example-sequence-cyp2c19-accession
.... 5.76 example-sequence-cyp2c19-attached
.... 5.77 example-sequence-cyp2c19-concatenated-regions
.... 5.78 example-sequence-cyp2c19-downstream-region
.... 5.79 example-sequence-cyp2c19-gene-region
.... 5.80 example-sequence-cyp2c19-upstream-region
.... 5.81 example-sequence-cyp2c19-url
.... 5.82 example-sequence-fmr1-cgg-20x-edited-contained
.... 5.83 example-sequence-fmr1-cgg-20x-edited-referenced
.... 5.84 example-sequence-fmr1-cgg-20x-repeat
.... 5.85 example-sequence-hla000011
.... 5.86 example-sequence-nc00000714-url
.... 5.87 example-sequence-nm0007694-url
.... 5.88 example-variation-cyp2c19-1015-spdi
.... 5.89 example-variation-cyp2c19-1015-spdi-coded
.... 5.90 example-variation-cyp2c19-1015-vcf
.... 5.91 example-variation-cyp2c19-1015-vrs
.... 5.92 example-variation-cyp2c19-991-hgvs
.... 5.93 example-variation-tri-allelic-ABCB1
.... 5.94 example-variation-tri-allelic-ABCB1-coded