{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA253339",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 240,
          "referenceAllele": "P",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Pro240Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253338",
          "hgvs": "NM_022124.6:c.719C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19967[alleleid]",
        "alleleId": 19967,
        "preferredName": "NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4928",
        "RCV": [
          "RCV000005211",
          "RCV001261012",
          "RCV001106128",
          "RCV001205177",
          "RCV002476931",
          "RCV001831515",
          "RCV003472978"
        ],
        "variationId": 4928
      }
    ]
  },
  "type": "amino-acid"
}