{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828068184",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1373,
          "referenceAllele": "D",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NP_001349772.1:p.Asp1373Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602840",
          "hgvs": "NM_001362843.2:c.4117G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618289"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363281[alleleid]",
        "alleleId": 363281,
        "preferredName": "NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376402",
        "RCV": [
          "RCV000419852",
          "RCV000425557",
          "RCV000426641",
          "RCV000436887",
          "RCV000435813",
          "RCV000443543"
        ],
        "variationId": 376402
      }
    ]
  },
  "type": "amino-acid"
}