{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826096546",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 198,
          "referenceAllele": "E",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_001165404.1:p.Glu198Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377159510",
          "hgvs": "NM_001171933.1:c.592G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155860"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439917[alleleid]",
        "alleleId": 439917,
        "preferredName": "NM_022124.6(CDH23):c.7312G>A (p.Glu2438Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446449",
        "RCV": [
          "RCV000515741"
        ],
        "variationId": 446449
      }
    ]
  },
  "type": "amino-acid"
}