{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250543",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2221,
          "referenceAllele": "P",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NP_001420.2:p.Pro2221Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250542",
          "hgvs": "NM_001429.4:c.6662C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21920[alleleid]",
        "alleleId": 21920,
        "preferredName": "NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6881",
        "RCV": [
          "RCV000007284"
        ],
        "variationId": 6881
      }
    ]
  },
  "type": "amino-acid"
}