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        "maneStatus": "MANE Select",
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            "hgvs": "NP_127497.1:p.Met1184Val"
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          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN014374",
      "geneNCBI_id": 22861,
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      "hgvs": [
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      "gene": "http://reg.genome.network/gene/GN014374",
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      "geneSymbol": "NLRP1",
      "hgvs": [
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    {
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      "gene": "http://reg.genome.network/gene/GN014374",
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      "referenceSequence": "http://reg.genome.network/refseq/RS699240"
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    {
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      "gene": "http://reg.genome.network/gene/GN014374",
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  "type": "nucleotide"
}