{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830286277",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 556,
          "referenceAllele": "R",
          "start": 555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NP_671737.1:p.Arg556Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117164",
          "hgvs": "NM_147204.2:c.1667G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182150"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20031[alleleid]",
        "alleleId": 20031,
        "preferredName": "NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4992",
        "RCV": [
          "RCV000005280",
          "RCV000202519",
          "RCV001269634",
          "RCV003505079"
        ],
        "variationId": 4992
      }
    ]
  },
  "type": "amino-acid"
}