{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA198051",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1509,
          "referenceAllele": "F",
          "start": 1508
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      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_000548.5:c.4527C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394302825",
          "hgvs": "NM_000548.5:c.4525T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394302842",
          "hgvs": "NM_000548.5:c.4527C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184142[alleleid]",
        "alleleId": 184142,
        "preferredName": "NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=466094[alleleid]",
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        "preferredName": "NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187598",
        "RCV": [
          "RCV000167342",
          "RCV001230620",
          "RCV001753574"
        ],
        "variationId": 187598
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/468097",
        "RCV": [
          "RCV000535938",
          "RCV000568343"
        ],
        "variationId": 468097
      }
    ]
  },
  "type": "amino-acid"
}