{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA182093",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3210,
          "referenceAllele": "I",
          "start": 3209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Ile3210Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182092",
          "hgvs": "NM_022124.6:c.9629T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=175287[alleleid]",
        "alleleId": 175287,
        "preferredName": "NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178315",
        "RCV": [
          "RCV000155059",
          "RCV000317072",
          "RCV000277348",
          "RCV000298108",
          "RCV000371681",
          "RCV000313766",
          "RCV000353393",
          "RCV001241617",
          "RCV001276933",
          "RCV001526764"
        ],
        "variationId": 178315
      }
    ]
  },
  "type": "amino-acid"
}