{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA111139",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1984,
          "referenceAllele": "R",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014234",
      "geneNCBI_id": 64324,
      "geneSymbol": "NSD1",
      "hgvs": [
        "NP_071900.2:p.Arg1984Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA295010",
          "hgvs": "NM_022455.5:c.5951G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177847"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=168242[alleleid]",
        "alleleId": 168242,
        "preferredName": "NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/159390",
        "RCV": [
          "RCV000405920",
          "RCV003231289"
        ],
        "variationId": 159390
      }
    ]
  },
  "type": "amino-acid"
}