{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825958086",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1092,
          "referenceAllele": "P",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155899.1:p.Pro1092Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007363",
          "hgvs": "NM_001162427.2:c.3275C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154784"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50137[alleleid]",
        "alleleId": 50137,
        "preferredName": "NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41698",
        "RCV": [
          "RCV000034611",
          "RCV000274136",
          "RCV000572666",
          "RCV001081625"
        ],
        "variationId": 41698
      }
    ]
  },
  "type": "amino-acid"
}