{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828319252",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 1111,
          "referenceAllele": "Q",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023805",
      "geneNCBI_id": 55252,
      "geneSymbol": "ASXL2",
      "hgvs": [
        "NP_001356276.1:p.Gln1111Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1557360",
          "hgvs": "NM_001369347.1:c.3331C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709577"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=364035[alleleid]",
        "alleleId": 364035,
        "preferredName": "NM_018263.6(ASXL2):c.4111C>A (p.Gln1371Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/377157",
        "RCV": [
          "RCV000428840",
          "RCV002480279"
        ],
        "variationId": 377157
      }
    ]
  },
  "type": "amino-acid"
}