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    },
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          "allele": "G",
          "end": 1130,
          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_024447617.1:c.599C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303385.1:p.Thr200Arg",
        "hgvsWellDefined": "XP_024303385.1:p.Thr200Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581198"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "XM_024447618.1:c.599C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303386.1:p.Thr200Arg",
        "hgvsWellDefined": "XP_024303386.1:p.Thr200Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS581199"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN018865",
      "geneNCBI_id": 57582,
      "geneSymbol": "KCNT1",
      "hgvs": [
        "NM_020822.3:c.1109C>G"
      ],
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        "hgvsWellDefined": "NP_065873.2:p.Thr370Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS670113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS681247"
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  ],
  "type": "nucleotide"
}