{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826141261",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 332,
          "referenceAllele": "Q",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016466",
      "geneNCBI_id": 51684,
      "geneSymbol": "SUFU",
      "hgvs": [
        "NP_001171604.1:p.Gln332Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5667831",
          "hgvs": "NM_001178133.2:c.994C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156354"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=809854[alleleid]",
        "alleleId": 809854,
        "preferredName": "NM_016169.4(SUFU):c.994C>G (p.Gln332Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/823579",
        "RCV": [
          "RCV001019939",
          "RCV001860965"
        ],
        "variationId": 823579
      }
    ]
  },
  "type": "amino-acid"
}