{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA137478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1771,
          "referenceAllele": "R",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Arg1771Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA137477",
          "hgvs": "NM_022124.6:c.5312G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55139[alleleid]",
        "alleleId": 55139,
        "preferredName": "NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45974",
        "RCV": [
          "RCV000039209",
          "RCV000972816",
          "RCV001107733",
          "RCV003389447"
        ],
        "variationId": 45974
      }
    ]
  },
  "type": "amino-acid"
}