{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915987524",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 991,
          "referenceAllele": "S",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NP_001155899.1:p.Ser991Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA035967",
          "hgvs": "NM_001162427.2:c.2972G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154784"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202465[alleleid]",
        "alleleId": 202465,
        "preferredName": "NM_000368.5(TSC1):c.3125G>T (p.Ser1042Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207640",
        "RCV": [
          "RCV000189859",
          "RCV001080753",
          "RCV001018741",
          "RCV001818461"
        ],
        "variationId": 207640
      }
    ]
  },
  "type": "amino-acid"
}