{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826098503",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 110,
          "referenceAllele": "S",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_001165405.1:p.Ser110Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA223630",
          "hgvs": "NM_001171934.1:c.329C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155861"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101920[alleleid]",
        "alleleId": 101920,
        "preferredName": "NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/96026",
        "RCV": [
          "RCV000082088",
          "RCV000764922",
          "RCV001831884"
        ],
        "variationId": 96026
      }
    ]
  },
  "type": "amino-acid"
}