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          "referenceAllele": "C",
          "start": 786
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      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
        "XM_011542833.2:c.772C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541135.1:p.Arg258Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS554943"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007132",
      "geneNCBI_id": 4297,
      "geneSymbol": "KMT2A",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001184033.1:p.Arg1064Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS679350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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      "geneNCBI_id": 4297,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS696566"
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  ],
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}