{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645495220",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2427,
          "referenceAllele": "L",
          "start": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NP_004949.1:p.Leu2427Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA338380760",
          "hgvs": "NM_004958.4:c.7280T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170628"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=404625[alleleid]",
        "alleleId": 404625,
        "preferredName": "NM_004958.4(MTOR):c.7280T>A (p.Leu2427Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/417724",
        "RCV": [
          "RCV000477677"
        ],
        "variationId": 417724
      }
    ]
  },
  "type": "amino-acid"
}