{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253322",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1746,
          "referenceAllele": "R",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Arg1746Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253321",
          "hgvs": "NM_022124.6:c.5237G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19955[alleleid]",
        "alleleId": 19955,
        "preferredName": "NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4916",
        "RCV": [
          "RCV000005198",
          "RCV000254732",
          "RCV000844622",
          "RCV000763215",
          "RCV001073594",
          "RCV001274889",
          "RCV001328020",
          "RCV002222340",
          "RCV002272010",
          "RCV002512799",
          "RCV003472972",
          "RCV004528082"
        ],
        "variationId": 4916
      }
    ]
  },
  "type": "amino-acid"
}