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        "hgvs": "XP_016876028.1:p.Arg3167Ter"
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      "coordinates": [
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          "allele": "T",
          "end": 10174,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.9535C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Arg3179Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
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      "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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        "protein": {
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
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  ],
  "type": "nucleotide"
}