{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916078397",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 316,
          "referenceAllele": "R",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NP_671737.1:p.Arg316Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117182",
          "hgvs": "NM_147204.2:c.946C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182150"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20040[alleleid]",
        "alleleId": 20040,
        "preferredName": "NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5001",
        "RCV": [
          "RCV000005294",
          "RCV000005295",
          "RCV000192245",
          "RCV000202561",
          "RCV000236285",
          "RCV000789587",
          "RCV001796956",
          "RCV002371763"
        ],
        "variationId": 5001
      }
    ]
  },
  "type": "amino-acid"
}