{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915992082",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 563,
          "referenceAllele": "V",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_001165405.1:p.Val563Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA137596",
          "hgvs": "NM_001171934.1:c.1687G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155861"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55213[alleleid]",
        "alleleId": 55213,
        "preferredName": "NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46048",
        "RCV": [
          "RCV000039284",
          "RCV001243714",
          "RCV001276919",
          "RCV002513536"
        ],
        "variationId": 46048
      }
    ]
  },
  "type": "amino-acid"
}