{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA175523",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 2764,
          "referenceAllele": "V",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Val2764Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA175522",
          "hgvs": "NM_022124.6:c.8290G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175278[alleleid]",
        "alleleId": 175278,
        "preferredName": "NM_022124.6(CDH23):c.8290G>A (p.Val2764Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/162946",
        "RCV": [
          "RCV000150324",
          "RCV000928676",
          "RCV001108165",
          "RCV001108166",
          "RCV002514890",
          "RCV003389457",
          "RCV004544350"
        ],
        "variationId": 162946
      }
    ]
  },
  "type": "amino-acid"
}