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 Use Cases
... 4 Artifacts Summary
.... 4.1 Allele
.... 4.2 Genotype
.... 4.3 Haplotype
.... 4.4 Sequence
.... 4.5 Variation
.... 4.6 Amino Acid 1-letter Ambiguous Symbols
.... 4.7 Amino Acid 1-letter Unambiguous Symbols
.... 4.8 Amino Acid 3-letter Ambiguous Symbols
.... 4.9 Amino Acid 3-letter Unambiguous Symbols
.... 4.10 Coordinate Origin
.... 4.11 Molecular Definition Encodings
.... 4.12 Molecular Definition Focus
.... 4.13 Molecule Type
.... 4.14 Normalization Method
.... 4.15 Nucleotide DNA 1-letter Ambiguous Symbols
.... 4.16 Nucleotide DNA 1-letter Unambiguous Symbols
.... 4.17 Nucleotide DNA 1-letter Unambiguous Symbols Including N
.... 4.18 Nucleotide RNA 1-letter Unambiguous Symbols
.... 4.19 Strand Orientation
.... 4.20 Topology
.... 4.21 Amino Acid Symbols
.... 4.22 Coordinate Origin
.... 4.23 Encodings
.... 4.24 Molecular Definition Focus
.... 4.25 Molecule Type
.... 4.26 Normalization Method
.... 4.27 Nucleotide DNA Symbols
.... 4.28 Nucleotide RNA Symbols
.... 4.29 Strand Orientation
.... 4.30 Topology
.... 4.31 example-allelesliced-cyp2c19-1016-cont
.... 4.32 example-allelesliced-cyp2c19-1016g
.... 4.33 example-allelesliced-cyp2c19-661a
.... 4.34 example-allelesliced-cyp2c19-661g
.... 4.35 example-allelesliced-cyp2c19-661g-coded
.... 4.36 example-allelesliced-hla-121-a
.... 4.37 example-allelesliced-hla-121-c
.... 4.38 example-allelesliced-hla-123-c
.... 4.39 example-allelesliced-hla-123-t
.... 4.40 example-allelesliced-hla-126-a
.... 4.41 example-allelesliced-hla-126-g
.... 4.42 example-allelesliced-hla-144-a
.... 4.43 example-allelesliced-hla-144-a-coded
.... 4.44 example-allelesliced-hla-144-c
.... 4.45 example-allelesliced-hla-98-c
.... 4.46 example-allelesliced-hla-98-t
.... 4.47 example-genomic-cyp2c19-accession
.... 4.48 example-genomicfile-af1961831-url
.... 4.49 example-genomicfile-cyp2c19-accession
.... 4.50 example-genomicfile-cyp2c19-attached
.... 4.51 example-genomicfile-cyp2c19-url
.... 4.52 example-genomicfile-hla00001
.... 4.53 example-genomicfile-mw7162561
.... 4.54 example-genomicfile-nc00000714-url
.... 4.55 example-genomicfile-nc00001010-url
.... 4.56 example-genomicfile-ng0083843
.... 4.57 example-genomicfile-nm0002513
.... 4.58 example-genomicfile-nm0007694
.... 4.59 example-genomicfile-nm0020245
.... 4.60 example-genotype-cyp2c19-1002-and-3
.... 4.61 example-genotype-hla-00001-and-2
.... 4.62 example-haplotype-cyp2c19-1002
.... 4.63 example-haplotype-cyp2c19-3002
.... 4.64 example-haplotype-hla-00001
.... 4.65 example-haplotype-hla-00002
.... 4.66 example-sequence-a-aa-iupac
.... 4.67 example-sequence-a-dna-iupac
.... 4.68 example-sequence-c-dna-iupac
.... 4.69 example-sequence-cgg
.... 4.70 example-sequence-cyp2c19-accession
.... 4.71 example-sequence-cyp2c19-attached
.... 4.72 example-sequence-cyp2c19-concatenated-regions
.... 4.73 example-sequence-cyp2c19-downstream-region
.... 4.74 example-sequence-cyp2c19-gene-region
.... 4.75 example-sequence-cyp2c19-upstream-region
.... 4.76 example-sequence-cyp2c19-url
.... 4.77 example-sequence-fmr1-cgg-20x-edited-contained
.... 4.78 example-sequence-fmr1-cgg-20x-edited-referenced
.... 4.79 example-sequence-fmr1-cgg-20x-repeat
.... 4.80 example-sequence-hla000011
.... 4.81 example-sequence-nc00000714-url
.... 4.82 example-sequence-nm0007694-url
.... 4.83 example-variation-cyp2c19-1015-spdi
.... 4.84 example-variation-cyp2c19-1015-spdi-coded
.... 4.85 example-variation-tri-allelic-ABCB1
.... 4.86 example-variation-tri-allelic-ABCB1-coded