{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826116012",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 750,
          "referenceAllele": "E",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018083",
      "geneNCBI_id": 59341,
      "geneSymbol": "TRPV4",
      "hgvs": [
        "NP_001170899.1:p.Glu750Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117195",
          "hgvs": "NM_001177428.1:c.2248G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156195"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33474[alleleid]",
        "alleleId": 33474,
        "preferredName": "NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18435",
        "RCV": [
          "RCV000005304",
          "RCV000005303",
          "RCV000023424",
          "RCV000202566",
          "RCV001331193",
          "RCV001549550",
          "RCV001851964",
          "RCV001823100"
        ],
        "variationId": 18435
      }
    ]
  },
  "type": "amino-acid"
}