{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499232760",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2085,
          "referenceAllele": "R",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NP_000480.3:p.Arg2085Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413701171",
          "hgvs": "NM_000489.5:c.6253C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147024"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1170393[alleleid]",
        "alleleId": 1170393,
        "preferredName": "NM_000489.6(ATRX):c.6253C>T (p.Arg2085Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1180765",
        "RCV": [
          "RCV001557178",
          "RCV001814494",
          "RCV001824991"
        ],
        "variationId": 1180765
      }
    ]
  },
  "type": "amino-acid"
}