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          "startIntronDirection": "-",
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      "gene": "http://reg.genome.network/gene/GN029941",
      "geneNCBI_id": 57798,
      "geneSymbol": "GATAD1",
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      "referenceSequence": "http://reg.genome.network/refseq/RS608560"
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      "gene": "http://reg.genome.network/gene/GN008850",
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      "hgvs": [
        "NM_000466.3:c.3568C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662453",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "geneNCBI_id": 5189,
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      "hgvs": [
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      "gene": "http://reg.genome.network/gene/GN008850",
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      "geneSymbol": "PEX1",
      "hgvs": [
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        "hgvs": "NP_001269607.1:p.Gln982Glu",
        "hgvsWellDefined": "NP_001269607.1:p.Gln982Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681862"
    }
  ],
  "type": "nucleotide"
}