{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826141158",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 289,
          "referenceAllele": "R",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NP_001171604.1:p.Arg289Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5667790",
          "hgvs": "NM_001178133.2:c.866G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156354"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=397649[alleleid]",
        "alleleId": 397649,
        "preferredName": "NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406380",
        "RCV": [
          "RCV000465818",
          "RCV000566014",
          "RCV001753876"
        ],
        "variationId": 406380
      }
    ]
  },
  "type": "amino-acid"
}