{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825504061",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 269,
          "referenceAllele": "R",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006180",
      "geneNCBI_id": 3708,
      "geneSymbol": "ITPR1",
      "hgvs": [
        "NP_001093422.2:p.Arg269Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10588363",
          "hgvs": "NM_001099952.4:c.805C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151318"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=259766[alleleid]",
        "alleleId": 259766,
        "preferredName": "NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265201",
        "RCV": [
          "RCV000254736",
          "RCV000623132",
          "RCV000677359",
          "RCV000850563",
          "RCV000995787",
          "RCV002278250",
          "RCV003335291"
        ],
        "variationId": 265201
      }
    ]
  },
  "type": "amino-acid"
}