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      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144997.7:c.1637A>G"
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      "proteinEffect": {
        "hgvs": "NP_659434.2:p.Asn546Ser",
        "hgvsWellDefined": "NP_659434.2:p.Asn546Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS672110",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "coordinates": [
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          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340158.1:p.Asn564Ser"
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    },
    {
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      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353230.2:c.1637A>G"
      ],
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        "hgvs": "NP_001340159.1:p.Asn546Ser",
        "hgvsWellDefined": "NP_001340159.1:p.Asn546Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827722647",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
    }
  ],
  "type": "nucleotide"
}