{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828059526",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 245,
          "referenceAllele": "P",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001349106.1:p.Pro245Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA027020",
          "hgvs": "NM_001362177.1:c.734C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622859"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202491[alleleid]",
        "alleleId": 202491,
        "preferredName": "NM_000368.5(TSC1):c.1097C>T (p.Pro366Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207608",
        "RCV": [
          "RCV000189810",
          "RCV000225784",
          "RCV001017276",
          "RCV001355439"
        ],
        "variationId": 207608
      }
    ]
  },
  "type": "amino-acid"
}