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      "geneSymbol": "SACS",
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      "coordinates": [
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          "end": 1057,
          "referenceAllele": "",
          "start": 1057
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
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  ],
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}