{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829355463",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1479,
          "referenceAllele": "R",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NP_002411.3:p.Arg1479Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7451630",
          "hgvs": "NM_002420.6:c.4435C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168272"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873170[alleleid]",
        "alleleId": 873170,
        "preferredName": "NM_001252024.2(TRPM1):c.4501C>T (p.Arg1501Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/887262",
        "RCV": [
          "RCV001119897",
          "RCV001473481"
        ],
        "variationId": 887262
      }
    ]
  },
  "type": "amino-acid"
}