{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA358906",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 178,
          "referenceAllele": "R",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006176",
      "geneNCBI_id": 3704,
      "geneSymbol": "ITPA",
      "hgvs": [
        "NP_258412.1:p.Arg178Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA210447",
          "hgvs": "NM_033453.4:c.532C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214744[alleleid]",
        "alleleId": 214744,
        "preferredName": "NM_033453.4(ITPA):c.532C>T (p.Arg178Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218090",
        "RCV": [
          "RCV000202320",
          "RCV001204840",
          "RCV002277556",
          "RCV003407715"
        ],
        "variationId": 218090
      }
    ]
  },
  "type": "amino-acid"
}