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          "allele": "C",
          "end": 673,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
      "geneSymbol": "PSEN1",
      "hgvs": [
        "XM_011536974.2:c.497C="
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS552701"
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      "gene": "http://reg.genome.network/gene/GN009508",
      "geneNCBI_id": 5663,
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      "MANE": {
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS696969"
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  ],
  "type": "nucleotide"
}