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        "hgvs": "NP_620595.1:n.1152-32C>A"
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      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS729203",
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "geneNCBI_id": 11093,
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      "hgvs": [
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}