{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828385870",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "EEE",
          "end": 1185,
          "referenceAllele": "",
          "start": 1185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017582",
      "geneNCBI_id": 23522,
      "geneSymbol": "KAT6B",
      "hgvs": [
        "NP_001357067.1:p.Glu1183_Glu1185dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5564961",
          "hgvs": "NM_001370138.1:c.3548_3556dup"
        },
        {
          "@id": "http://reg.genome.network/allele/CA668390895",
          "hgvs": "NM_001370138.1:c.3556_3557insAAGAAGAAG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709701"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253852[alleleid]",
        "alleleId": 253852,
        "preferredName": "NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260244",
        "RCV": [
          "RCV000249396",
          "RCV000443242",
          "RCV001081925",
          "RCV002518640",
          "RCV004529439"
        ],
        "variationId": 260244
      }
    ]
  },
  "type": "amino-acid"
}