{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499242798",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 865,
          "referenceAllele": "A",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007146",
      "geneNCBI_id": 4308,
      "geneSymbol": "TRPM1",
      "hgvs": [
        "NP_001238949.1:p.Ala865Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7452166",
          "hgvs": "NM_001252020.2:c.2594C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159294"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063219[alleleid]",
        "alleleId": 1063219,
        "preferredName": "NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072860",
        "RCV": [
          "RCV001385696",
          "RCV002488206"
        ],
        "variationId": 1072860
      }
    ]
  },
  "type": "amino-acid"
}