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        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_144997.7:c.694C>G"
          }
        },
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          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_659434.2:p.Gln232Glu"
          }
        }
      }
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      "coordinates": [
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          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
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      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353229.2:c.748C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340158.1:p.Gln250Glu",
        "hgvsWellDefined": "NP_001340158.1:p.Gln250Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS689657"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
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      "hgvs": [
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      ],
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        "hgvsWellDefined": "NP_001340159.1:p.Gln232Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689658"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_001353231.2:c.694C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340160.1:p.Gln232Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS689659"
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      "gene": "http://reg.genome.network/gene/GN027310",
      "geneNCBI_id": 201163,
      "geneSymbol": "FLCN",
      "hgvs": [
        "NM_144606.7:c.694C>G"
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS699908"
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  ],
  "type": "nucleotide"
}