{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645466404",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1399,
          "referenceAllele": "D",
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      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NP_001420.2:p.Asp1399Asn"
      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001429.4:c.4195G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363280[alleleid]",
        "alleleId": 363280,
        "preferredName": "NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376401",
        "RCV": [
          "RCV000424698",
          "RCV000432135",
          "RCV000433004",
          "RCV000441276",
          "RCV000423637",
          "RCV000442744"
        ],
        "variationId": 376401
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4539545",
        "RCV": [
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        ],
        "variationId": 4539545
      }
    ]
  },
  "type": "amino-acid"
}