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        "hgvs": "XP_011537076.1:n.6171+3G>T"
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          "endIntronDirection": "+",
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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        "hgvs": "XP_011537078.1:n.6192+3G>T"
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    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007133",
      "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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      "gene": "http://reg.genome.network/gene/GN007133",
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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}