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      "geneSymbol": "CTNS",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS693301"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
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        "hgvsWellDefined": "NP_001361425.1:p.Gly161Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
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    {
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      "gene": "http://reg.genome.network/gene/GN002518",
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      "geneSymbol": "CTNS",
      "hgvs": [
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        "hgvsWellDefined": "NP_004928.2:p.Gly308Arg"
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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "gene": "http://reg.genome.network/gene/GN002518",
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      "hgvs": [
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  "type": "nucleotide"
}