{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA184256",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2033,
          "referenceAllele": "S",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Ser2033Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA184255",
          "hgvs": "NM_022124.6:c.6098C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174988[alleleid]",
        "alleleId": 174988,
        "preferredName": "NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/179352",
        "RCV": [
          "RCV000156141",
          "RCV000724950",
          "RCV001275568"
        ],
        "variationId": 179352
      }
    ]
  },
  "type": "amino-acid"
}