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    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 16340,
          "referenceAllele": "C",
          "start": 16339
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.15058C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg5020Cys",
        "hgvsWellDefined": "XP_011537078.1:p.Arg5020Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15961,
          "endIntronDirection": "+",
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          "referenceAllele": "C",
          "start": 15961,
          "startIntronDirection": "+",
          "startIntronOffset": 978
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      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_001748874.1:n.15961+979C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA222028",
      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg5048Cys",
        "hgvsWellDefined": "NP_003473.3:p.Arg5048Cys"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.15142C>T"
          },
          "RefSeq": {
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        }
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    }
  ],
  "type": "nucleotide"
}