{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108342",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 269,
          "referenceAllele": "R",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NP_067638.3:p.Arg269Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130778",
          "hgvs": "NM_021625.5:c.805C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20041[alleleid]",
        "alleleId": 20041,
        "preferredName": "NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5002",
        "RCV": [
          "RCV000005296",
          "RCV000033215",
          "RCV000190885",
          "RCV000202537",
          "RCV000517563",
          "RCV000856933",
          "RCV001027476",
          "RCV002415400"
        ],
        "variationId": 5002
      }
    ]
  },
  "type": "amino-acid"
}