{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499232739",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 261,
          "referenceAllele": "S",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NP_000477.1:p.Ser261Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA236735974",
          "hgvs": "NM_000486.5:c.782C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147021"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017637[alleleid]",
        "alleleId": 1017637,
        "preferredName": "NM_000486.6(AQP2):c.782C>T (p.Ser261Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028289",
        "RCV": [
          "RCV001329306"
        ],
        "variationId": 1028289
      }
    ]
  },
  "type": "amino-acid"
}