{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827008811",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1112,
          "referenceAllele": "G",
          "start": 1111
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NP_001305758.1:p.Gly1112Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA019365",
          "hgvs": "NM_001318829.2:c.3334G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394289756",
          "hgvs": "NM_001318829.2:c.3334G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622695"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58689[alleleid]",
        "alleleId": 58689,
        "preferredName": "NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49527",
        "RCV": [
          "RCV000042787",
          "RCV000660346"
        ],
        "variationId": 49527
      }
    ]
  },
  "type": "amino-acid"
}