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      "referenceSequence": "http://reg.genome.network/refseq/RS678128"
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      "@id": "http://reg.genome.network/allele/PA2827923867",
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      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001354701.2:c.5371G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341630.1:p.Glu1791Ter",
        "hgvsWellDefined": "NP_001341630.1:p.Glu1791_Val1997delinsTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690293"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825491157",
      "coordinates": [
        {
          "allele": "T",
          "end": 5637,
          "referenceAllele": "G",
          "start": 5636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099404.2:c.5428G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092874.1:p.Glu1810Ter",
        "hgvsWellDefined": "NP_001092874.1:p.Glu1810_Val2016delinsTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711956",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000413689.6:c.5428G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001099404.2:c.5428G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410257.1:p.Glu1810Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001092874.1:p.Glu1810Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825497141",
      "coordinates": [
        {
          "allele": "T",
          "end": 5583,
          "referenceAllele": "G",
          "start": 5582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001099405.2:c.5374G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092875.1:p.Glu1792Ter",
        "hgvsWellDefined": "NP_001092875.1:p.Glu1792_Val1998delinsTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825945620",
      "coordinates": [
        {
          "allele": "T",
          "end": 5475,
          "referenceAllele": "G",
          "start": 5474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_001160161.2:c.5266G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153633.1:p.Glu1756Ter",
        "hgvsWellDefined": "NP_001153633.1:p.Glu1756_Val1962delinsTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506320",
      "coordinates": [
        {
          "allele": "T",
          "end": 5637,
          "referenceAllele": "G",
          "start": 5636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010593",
      "geneNCBI_id": 6331,
      "geneSymbol": "SCN5A",
      "hgvs": [
        "NM_198056.3:c.5428G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_932173.1:p.Glu1810Ter",
        "hgvsWellDefined": "NP_932173.1:p.Glu1810_Val2016delinsTyrSerValLeuSerAspPheAlaAspAlaLeuSerGluProLeuArgIleAlaLysProAsnGlnIleSerLeuIleAsnMetAspLeuProMetValSerGlyAspArgIleHisCysMetAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuLysIleGlnMetGluGluLysPheMetAlaAlaAsnProSerLysIleSerTyrGluProIleThrThrThrLeuArgArgLysHisGluGluValSerAlaMetValIleGlnArgAlaPheArgArgHisLeuLeuGlnArgSerLeuLysHisAlaSerPheLeuPheArgGlnGlnAlaGlySerGlyLeuSerGluGluAspAlaProGluArgGluGlyLeuIleAlaTyrValMetSerGluAsnPheSerArgProLeuGlyProProSerSerSerSerIleSerSerThrSerPheProProSerTyrAspSerValThrArgAlaThrSerAspAsnLeuGlnValArgGlySerAspTyrSerHisSerGluAspLeuAlaAspPheProProSerProAspArgAspArgGluSerIleValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729873"
    }
  ],
  "type": "nucleotide"
}