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        "NM_000109.4:c.6384G>A"
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          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
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      "hgvs": [
        "NM_004006.3:c.6408G>A"
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      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Trp2136Ter"
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      "MANE": {
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        "maneStatus": "MANE Select",
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      "gene": "http://reg.genome.network/gene/GN002928",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
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  "type": "nucleotide"
}