{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580140362",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 57,
          "referenceAllele": "R",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015968",
      "geneNCBI_id": 54332,
      "geneSymbol": "GDAP1",
      "hgvs": [
        "NP_001035808.1:p.Arg57Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371548543",
          "hgvs": "NM_001040875.4:c.169C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150116"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1774021[alleleid]",
        "alleleId": 1774021,
        "preferredName": "NM_018972.4(GDAP1):c.373C>G (p.Arg125Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1717396",
        "RCV": [
          "RCV002297585"
        ],
        "variationId": 1717396
      }
    ]
  },
  "type": "amino-acid"
}