{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092086",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 57,
          "referenceAllele": "Q",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NP_000477.1:p.Gln57Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127486",
          "hgvs": "NM_000486.5:c.170A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147021"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32881[alleleid]",
        "alleleId": 32881,
        "preferredName": "NM_000486.6(AQP2):c.170A>C (p.Gln57Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17842",
        "RCV": [
          "RCV000019420",
          "RCV001039718"
        ],
        "variationId": 17842
      }
    ]
  },
  "type": "amino-acid"
}