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      "geneSymbol": "NBEAL2",
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        "hgvsWellDefined": "XP_016861505.1:p.Gly2373Glu"
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN031928",
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        "hgvsWellDefined": "XP_016861506.1:p.Gly1377Glu"
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      "hgvs": [
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        "hgvsWellDefined": "NP_001352045.1:p.Gly2519Glu"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS697460",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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  ],
  "type": "nucleotide"
}