{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915992065",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 531,
          "referenceAllele": "G",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_001165405.1:p.Gly531Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA180727",
          "hgvs": "NM_001171934.1:c.1591G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155861"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175000[alleleid]",
        "alleleId": 175000,
        "preferredName": "NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/177767",
        "RCV": [
          "RCV000154384",
          "RCV001053772",
          "RCV001102961",
          "RCV001102962",
          "RCV001276918",
          "RCV001375066"
        ],
        "variationId": 177767
      }
    ]
  },
  "type": "amino-acid"
}