{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826116318",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198,
          "referenceAllele": "R",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NP_001170902.1:p.Arg198Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204953",
          "hgvs": "NM_001177431.1:c.592C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156196"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39429[alleleid]",
        "alleleId": 39429,
        "preferredName": "NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30472",
        "RCV": [
          "RCV000023429",
          "RCV000236017",
          "RCV000190886",
          "RCV000202445",
          "RCV000789594",
          "RCV001172888",
          "RCV001542600"
        ],
        "variationId": 30472
      }
    ]
  },
  "type": "amino-acid"
}