{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645398284",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "I",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_004371.2:p.Ile1453Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16620204",
          "hgvs": "NM_004380.3:c.4358T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=409637[alleleid]",
        "alleleId": 409637,
        "preferredName": "NM_004380.3(CREBBP):c.4358T>C (p.Ile1453Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421310",
        "RCV": [
          "RCV000482966"
        ],
        "variationId": 421310
      }
    ]
  },
  "type": "amino-acid"
}