{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA199565",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1483,
          "referenceAllele": "C",
          "start": 1482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NP_004949.1:p.Cys1483Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA199563",
          "hgvs": "NM_004958.4:c.4448G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170628"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=187953[alleleid]",
        "alleleId": 187953,
        "preferredName": "NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/190121",
        "RCV": [
          "RCV000170355",
          "RCV000224544",
          "RCV000431004",
          "RCV000420307",
          "RCV000441022"
        ],
        "variationId": 190121
      }
    ]
  },
  "type": "amino-acid"
}