{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915992021",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 483,
          "referenceAllele": "V",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_001165405.1:p.Val483Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA137590",
          "hgvs": "NM_001171934.1:c.1447G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377162493",
          "hgvs": "NM_001171934.1:c.1447G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155861"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55210[alleleid]",
        "alleleId": 55210,
        "preferredName": "NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/46045",
        "RCV": [
          "RCV000039281",
          "RCV000725935",
          "RCV001108161",
          "RCV001108162",
          "RCV001276044"
        ],
        "variationId": 46045
      }
    ]
  },
  "type": "amino-acid"
}