{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916008299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 663,
          "referenceAllele": "R",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NP_001238949.1:p.Arg663Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129158",
          "hgvs": "NM_001252020.2:c.1987C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39319[alleleid]",
        "alleleId": 39319,
        "preferredName": "NM_001252024.2(TRPM1):c.1936C>T (p.Arg646Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30362",
        "RCV": [
          "RCV000023310"
        ],
        "variationId": 30362
      }
    ]
  },
  "type": "amino-acid"
}