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      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.16449G>C"
      ],
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        "hgvs": "XP_011537076.1:p.Arg5483Ser",
        "hgvsWellDefined": "XP_011537076.1:p.Arg5483Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
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      "coordinates": [
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          "allele": "C",
          "end": 17659,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.16377G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Arg5459Ser",
        "hgvsWellDefined": "XP_011537078.1:p.Arg5459Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
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          "allele": "C",
          "end": 16590,
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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"
    },
    {
      "@id": "http://reg.genome.network/allele/PA271614",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NM_003482.4:c.16413G>C"
      ],
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        "hgvs": "NP_003473.3:p.Arg5471Ser",
        "hgvsWellDefined": "NP_003473.3:p.Arg5471Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000301067.12:c.16413G>C"
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          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg5471Ser"
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  ],
  "type": "nucleotide"
}