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      "MANE": {
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        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000302127.5:c.1034G>T"
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          "RefSeq": {
            "hgvs": "NM_001378969.1:c.1034G>T"
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            "hgvs": "NP_001365898.1:p.Gly345Val"
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      "coordinates": [
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          "end": 1270,
          "referenceAllele": "G",
          "start": 1269
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      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS721869"
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      "gene": "http://reg.genome.network/gene/GN006239",
      "geneNCBI_id": 3752,
      "geneSymbol": "KCND3",
      "hgvs": [
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        "hgvsWellDefined": "NP_004971.2:p.Gly345Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS727569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916062920",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN006239",
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      "geneSymbol": "KCND3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_751948.1:p.Gly345Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS729539"
    }
  ],
  "type": "nucleotide"
}