{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 2215,
          "referenceAllele": "S",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003942",
      "geneNCBI_id": 2475,
      "geneSymbol": "MTOR",
      "hgvs": [
        "NP_004949.1:p.Ser2215Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248393",
          "hgvs": "NM_004958.4:c.6644C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170628"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166563[alleleid]",
        "alleleId": 166563,
        "preferredName": "NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156703",
        "RCV": [
          "RCV000190281",
          "RCV000429373",
          "RCV000477713",
          "RCV000430308",
          "RCV000439373",
          "RCV000422164",
          "RCV000419624",
          "RCV000436863",
          "RCV000440054",
          "RCV001836737"
        ],
        "variationId": 156703
      }
    ]
  },
  "type": "amino-acid"
}