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      "geneSymbol": "KMT2D",
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        "hgvsWellDefined": "XP_011537075.1:p.Ser5166Gly"
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    },
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
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    },
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
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        "hgvsWellDefined": "XP_011537078.1:p.Ser5139Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
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      "coordinates": [
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      "hgvs": [
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      "hgvs": [
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      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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  ],
  "type": "nucleotide"
}