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        "hgvsWellDefined": "XP_011537075.1:p.Glu4693Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 15351,
          "referenceAllele": "G",
          "start": 15350
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      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538774.2:c.14068G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537076.1:p.Glu4690Gln",
        "hgvsWellDefined": "XP_011537076.1:p.Glu4690Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538776.2:c.13996G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537078.1:p.Glu4666Gln",
        "hgvsWellDefined": "XP_011537078.1:p.Glu4666Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
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          "allele": "C",
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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/PA160624",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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        "hgvs": "NP_003473.3:p.Glu4694Gln",
        "hgvsWellDefined": "NP_003473.3:p.Glu4694Gln"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14080G>C"
          },
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        "protein": {
          "Ensembl": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}