{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826117929",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 487,
          "referenceAllele": "R",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NP_001170904.1:p.Arg487His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117168",
          "hgvs": "NM_001177433.1:c.1460G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156197"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20033[alleleid]",
        "alleleId": 20033,
        "preferredName": "NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4994",
        "RCV": [
          "RCV000005282",
          "RCV000005283",
          "RCV000202560",
          "RCV000498625",
          "RCV000691603",
          "RCV001618207",
          "RCV002243623",
          "RCV002512802"
        ],
        "variationId": 4994
      }
    ]
  },
  "type": "amino-acid"
}