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      "coordinates": [
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          "allele": "C",
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      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011537078.1:p.Leu2582Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
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    {
      "coordinates": [
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          "allele": "C",
          "end": 9147,
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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/PA645489723",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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        "hgvsWellDefined": "NP_003473.3:p.Leu2610Pro"
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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"
}