{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499267322",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 128,
          "referenceAllele": "S",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002348",
      "geneNCBI_id": 1387,
      "geneSymbol": "CREBBP",
      "hgvs": [
        "NP_004371.2:p.Ser128Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394561335",
          "hgvs": "NM_004380.3:c.383C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170085"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1166935[alleleid]",
        "alleleId": 1166935,
        "preferredName": "NM_004380.3(CREBBP):c.383C>A (p.Ser128Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1177490",
        "RCV": [
          "RCV001535563"
        ],
        "variationId": 1177490
      }
    ]
  },
  "type": "amino-acid"
}