{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825954418",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1040,
          "referenceAllele": "S",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155898.1:p.Ser1040Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA035953",
          "hgvs": "NM_001162426.2:c.3120C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375367328",
          "hgvs": "NM_001162426.2:c.3120C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA375367339",
          "hgvs": "NM_001162426.2:c.3118A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202466[alleleid]",
        "alleleId": 202466,
        "preferredName": "NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207620",
        "RCV": [
          "RCV000225953",
          "RCV000341814",
          "RCV001705062",
          "RCV002257479",
          "RCV003416119"
        ],
        "variationId": 207620
      }
    ]
  },
  "type": "amino-acid"
}