{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA236149",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 997,
          "referenceAllele": "E",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018318",
      "geneNCBI_id": 171023,
      "geneSymbol": "ASXL1",
      "hgvs": [
        "NP_056153.2:p.Glu997Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA236147",
          "hgvs": "NM_015338.6:c.2989G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174473"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=188964[alleleid]",
        "alleleId": 188964,
        "preferredName": "NM_015338.6(ASXL1):c.2989G>C (p.Glu997Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191161",
        "RCV": [
          "RCV000171345"
        ],
        "variationId": 191161
      }
    ]
  },
  "type": "amino-acid"
}