{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253335",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1341,
          "referenceAllele": "D",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Asp1341Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253334",
          "hgvs": "NM_022124.6:c.4021G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19962[alleleid]",
        "alleleId": 19962,
        "preferredName": "NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4923",
        "RCV": [
          "RCV000005205",
          "RCV000436619",
          "RCV001272891",
          "RCV003472977",
          "RCV003492284"
        ],
        "variationId": 4923
      }
    ]
  },
  "type": "amino-acid"
}