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      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:n.235+8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "coordinates": [
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          "allele": "A",
          "end": 1276,
          "endIntronDirection": "+",
          "endIntronOffset": 8,
          "referenceAllele": "G",
          "start": 1276,
          "startIntronDirection": "+",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.1147+8G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:n.1147+8G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.1147+8G>A"
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  ],
  "type": "nucleotide"
}