{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA137377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1160,
          "referenceAllele": "M",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013733",
      "geneNCBI_id": 64072,
      "geneSymbol": "CDH23",
      "hgvs": [
        "NP_071407.4:p.Met1160Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA137376",
          "hgvs": "NM_022124.6:c.3480G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377152310",
          "hgvs": "NM_022124.6:c.3480G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA377152313",
          "hgvs": "NM_022124.6:c.3480G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=55084[alleleid]",
        "alleleId": 55084,
        "preferredName": "NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/45919",
        "RCV": [
          "RCV000039152",
          "RCV000891539",
          "RCV001105553",
          "RCV001105554"
        ],
        "variationId": 45919
      }
    ]
  },
  "type": "amino-acid"
}