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      "gene": "http://reg.genome.network/gene/GN015888",
      "geneNCBI_id": 51750,
      "geneSymbol": "RTEL1",
      "hgvs": [
        "NM_001283009.2:c.649C>T"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS681988",
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        "maneStatus": "MANE Select",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS697724"
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS699223"
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  ],
  "type": "nucleotide"
}