{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092007",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "A",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000634",
      "geneNCBI_id": 359,
      "geneSymbol": "AQP2",
      "hgvs": [
        "NP_000477.1:p.Ala190Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA127492",
          "hgvs": "NM_000486.5:c.568G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147021"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32884[alleleid]",
        "alleleId": 32884,
        "preferredName": "NM_000486.6(AQP2):c.568G>A (p.Ala190Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17845",
        "RCV": [
          "RCV000019423"
        ],
        "variationId": 17845
      }
    ]
  },
  "type": "amino-acid"
}