{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826092752",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1077,
          "referenceAllele": "P",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_001165401.1:p.Pro1077Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175482",
          "hgvs": "NM_001171930.2:c.3230C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155857"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=174972[alleleid]",
        "alleleId": 174972,
        "preferredName": "NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162905",
        "RCV": [
          "RCV000150288",
          "RCV001046427",
          "RCV001075173",
          "RCV001835686"
        ],
        "variationId": 162905
      }
    ]
  },
  "type": "amino-acid"
}