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      "geneNCBI_id": 8085,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011537078.1:p.Arg3628Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
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      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
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      "coordinates": [
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      "geneNCBI_id": 8085,
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      "hgvs": [
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        "hgvsWellDefined": "NP_003473.3:p.Arg3656Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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}