{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108645",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 542,
          "referenceAllele": "S",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NP_067638.3:p.Ser542Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259819",
          "hgvs": "NM_021625.5:c.1625C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39426[alleleid]",
        "alleleId": 39426,
        "preferredName": "NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30469",
        "RCV": [
          "RCV000023426",
          "RCV000202508"
        ],
        "variationId": 30469
      }
    ]
  },
  "type": "amino-acid"
}