{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828060337",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 568,
          "referenceAllele": "R",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001349106.1:p.Arg568Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005878",
          "hgvs": "NM_001362177.1:c.1702C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622859"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182919[alleleid]",
        "alleleId": 182919,
        "preferredName": "NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185109",
        "RCV": [
          "RCV000164473",
          "RCV000439211",
          "RCV001086626"
        ],
        "variationId": 185109
      }
    ]
  },
  "type": "amino-acid"
}