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        "hgvsWellDefined": "XP_011537076.1:p.Lys4827Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
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      "coordinates": [
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          "allele": "C",
          "end": 15689,
          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Lys4803Gln",
        "hgvsWellDefined": "XP_011537078.1:p.Lys4803Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
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          "end": 15809,
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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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    {
      "@id": "http://reg.genome.network/allele/PA2580285067",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
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        "hgvsWellDefined": "NP_003473.3:p.Lys4831Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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  "type": "nucleotide"
}