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      "hgvs": [
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        "hgvs": "NP_001336797.1:p.Arg365Gln",
        "hgvsWellDefined": "NP_001336797.1:p.Arg365Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS688122"
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      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
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      "hgvs": [
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        "hgvs": "NP_001336798.1:p.Arg359Gln",
        "hgvsWellDefined": "NP_001336798.1:p.Arg359Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS688123"
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          "end": 1984,
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      "gene": "http://reg.genome.network/gene/GN009039",
      "geneNCBI_id": 8398,
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      "MANE": {
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        "maneStatus": "MANE Select",
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}