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      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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        "hgvsWellDefined": "XP_011537078.1:p.Ser3146Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10838,
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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/PA2580284323",
      "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.Ser3174Pro"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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  ],
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}