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        "hgvsWellDefined": "NP_001340881.1:p.Gln1877_Lys1998delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690000"
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        {
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          "start": 6016
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340883.1:p.Gln1876_Lys1997delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690001"
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        {
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      "gene": "http://reg.genome.network/gene/GN010585",
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        "hgvsWellDefined": "NP_001340884.1:p.Gln1876_Lys1997delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690002"
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      "@id": "http://reg.genome.network/allele/PA2827784039",
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        {
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          "start": 5876
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      "gene": "http://reg.genome.network/gene/GN010585",
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        "hgvsWellDefined": "NP_001340886.1:p.Gln1860_Lys1981delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690003"
    },
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      "@id": "http://reg.genome.network/allele/PA2827787000",
      "coordinates": [
        {
          "allele": "T",
          "end": 5834,
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340887.1:p.Gln1860_Lys1981delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690004"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827789970",
      "coordinates": [
        {
          "allele": "T",
          "end": 5966,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001340889.1:p.Gln1859Ter",
        "hgvsWellDefined": "NP_001340889.1:p.Gln1859_Lys1980delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827790752",
      "coordinates": [
        {
          "allele": "T",
          "end": 6036,
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          "start": 6035
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001340890.1:p.Gln1074Ter",
        "hgvsWellDefined": "NP_001340890.1:p.Gln1074_Lys1195delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303573",
      "coordinates": [
        {
          "allele": "T",
          "end": 6107,
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_006920.6:c.5629C>T"
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      "proteinEffect": {
        "hgvs": "NP_008851.3:p.Gln1877Ter",
        "hgvsWellDefined": "NP_008851.3:p.Gln1877_Lys1998delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 6078
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
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      "hgvs": [
        "NR_148667.2:n.6079C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS704821"
    },
    {
      "@id": "http://reg.genome.network/allele/PA303574",
      "coordinates": [
        {
          "allele": "T",
          "end": 6140,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN010585",
      "geneNCBI_id": 6323,
      "geneSymbol": "SCN1A",
      "hgvs": [
        "NM_001165963.4:c.5662C>T"
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      "proteinEffect": {
        "hgvs": "NP_001159435.1:p.Gln1888Ter",
        "hgvsWellDefined": "NP_001159435.1:p.Gln1888_Lys2009delinsMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000674923.1:c.5662C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001165963.4:c.5662C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501589.1:p.Gln1888Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001159435.1:p.Gln1888Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}