{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139752985",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1876,
          "referenceAllele": "S",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Ser1876Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA209457528",
          "hgvs": "NM_022124.6:c.5627G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=866138[alleleid]",
        "alleleId": 866138,
        "preferredName": "NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/879546",
        "RCV": [
          "RCV001107145",
          "RCV001107146",
          "RCV001856436"
        ],
        "variationId": 879546
      }
    ]
  },
  "type": "amino-acid"
}