{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658667849",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 2029,
          "referenceAllele": "R",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Arg2029Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5545996",
          "hgvs": "NM_022124.6:c.6085C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439914[alleleid]",
        "alleleId": 439914,
        "preferredName": "NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446446",
        "RCV": [
          "RCV000515743",
          "RCV002251483",
          "RCV003239292",
          "RCV003476213"
        ],
        "variationId": 446446
      }
    ]
  },
  "type": "amino-acid"
}