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"end": 5079, "referenceAllele": "G", "start": 5078 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XM_011511607.1:c.4895G>A" ], "proteinEffect": { "hgvs": "XP_011509909.1:p.Trp1632Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2826260459", "coordinates": [ { "allele": "A", "end": 5488, "referenceAllele": "G", "start": 5487 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.2:c.5177G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Trp1726Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827754786", "coordinates": [ { "allele": "A", "end": 5495, "referenceAllele": "G", "start": 5494 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.1:c.5177G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Trp1726Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827761325", "coordinates": [ { "allele": "A", "end": 5363, "referenceAllele": "G", "start": 5362 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.1:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Trp1715Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827771834", "coordinates": [ { "allele": "A", "end": 5462, "referenceAllele": "G", "start": 5461 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.1:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Trp1715Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827783767", "coordinates": [ { "allele": "A", "end": 5411, "referenceAllele": "G", "start": 5410 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.1:c.5093G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Trp1698Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827786728", "coordinates": [ { "allele": "A", "end": 5404, "referenceAllele": "G", "start": 5403 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.1:c.5093G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Trp1698Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827789696", "coordinates": [ { "allele": "A", "end": 5500, "referenceAllele": "G", "start": 5499 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.1:c.5090G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Trp1697Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2580230213", "coordinates": [ { "allele": "A", "end": 5570, "referenceAllele": "G", "start": 5569 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.1:c.2735G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Trp912Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2829676417", "coordinates": [ { "allele": "A", "end": 5641, "referenceAllele": "G", "start": 5640 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.5:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Trp1715Ter", "hgvsWellDefined": "NP_008851.3:p.Trp1715_Lys1998delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525436" }, { "coordinates": [ { "allele": "A", "end": 5613, "referenceAllele": "G", "start": 5612 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.1:n.5613G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531272" }, { "coordinates": [ { "allele": "A", "end": 5627, "referenceAllele": "G", "start": 5626 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738883.1:n.5627G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589320" }, { "coordinates": [ { "allele": "A", "end": 5599, "referenceAllele": "G", "start": 5598 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "XR_001738884.1:n.5599G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS589321" }, { "@id": "http://reg.genome.network/allele/PA2826010939", "coordinates": [ { "allele": "A", "end": 5655, "referenceAllele": "G", "start": 5654 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.3:c.5177G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Trp1726Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2826013858", "coordinates": [ { "allele": "A", "end": 5484, "referenceAllele": "G", "start": 5483 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165964.3:c.5093G>A" ], "proteinEffect": { "hgvs": "NP_001159436.1:p.Trp1698Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2826260459", "coordinates": [ { "allele": "A", "end": 5433, "referenceAllele": "G", "start": 5432 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001202435.3:c.5177G>A" ], "proteinEffect": { "hgvs": "NP_001189364.1:p.Trp1726Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827754786", "coordinates": [ { "allele": "A", "end": 5476, "referenceAllele": "G", "start": 5475 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353948.2:c.5177G>A" ], "proteinEffect": { "hgvs": "NP_001340877.1:p.Trp1726Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827761325", "coordinates": [ { "allele": "A", "end": 5308, "referenceAllele": "G", "start": 5307 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353949.2:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_001340878.1:p.Trp1715Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827767866", "coordinates": [ { "allele": "A", "end": 5400, "referenceAllele": "G", "start": 5399 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353950.2:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_001340879.1:p.Trp1715Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827771834", "coordinates": [ { "allele": "A", "end": 5443, "referenceAllele": "G", "start": 5442 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353951.2:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_001340880.1:p.Trp1715Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827774822", "coordinates": [ { "allele": "A", "end": 5535, "referenceAllele": "G", "start": 5534 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353952.2:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_001340881.1:p.Trp1715Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827777806", "coordinates": [ { "allele": "A", "end": 5532, "referenceAllele": "G", "start": 5531 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353954.2:c.5141G>A" ], "proteinEffect": { "hgvs": "NP_001340883.1:p.Trp1714Ter", "hgvsWellDefined": 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"http://reg.genome.network/allele/PA2827780792", "coordinates": [ { "allele": "A", "end": 5440, "referenceAllele": "G", "start": 5439 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353955.2:c.5141G>A" ], "proteinEffect": { "hgvs": "NP_001340884.1:p.Trp1714Ter", "hgvsWellDefined": "NP_001340884.1:p.Trp1714_Lys1997delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690002" }, { "@id": "http://reg.genome.network/allele/PA2827783767", "coordinates": [ { "allele": "A", "end": 5392, "referenceAllele": "G", "start": 5391 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353957.2:c.5093G>A" ], "proteinEffect": { "hgvs": "NP_001340886.1:p.Trp1698Ter", "hgvsWellDefined": "NP_001340886.1:p.Trp1698_Lys1981delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690003" }, { "@id": "http://reg.genome.network/allele/PA2827786728", "coordinates": [ { "allele": "A", "end": 5349, "referenceAllele": "G", "start": 5348 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353958.2:c.5093G>A" ], "proteinEffect": { "hgvs": "NP_001340887.1:p.Trp1698Ter", "hgvsWellDefined": "NP_001340887.1:p.Trp1698_Lys1981delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690004" }, { "@id": "http://reg.genome.network/allele/PA2827789696", "coordinates": [ { "allele": "A", "end": 5481, "referenceAllele": "G", "start": 5480 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353960.2:c.5090G>A" ], "proteinEffect": { "hgvs": "NP_001340889.1:p.Trp1697Ter", "hgvsWellDefined": "NP_001340889.1:p.Trp1697_Lys1980delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690005" }, { "@id": "http://reg.genome.network/allele/PA2580230213", "coordinates": [ { "allele": "A", "end": 5551, "referenceAllele": "G", "start": 5550 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001353961.2:c.2735G>A" ], "proteinEffect": { "hgvs": "NP_001340890.1:p.Trp912Ter", "hgvsWellDefined": "NP_001340890.1:p.Trp912_Lys1195delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690006" }, { "@id": "http://reg.genome.network/allele/PA2829676417", "coordinates": [ { "allele": "A", "end": 5622, "referenceAllele": "G", "start": 5621 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_006920.6:c.5144G>A" ], "proteinEffect": { "hgvs": "NP_008851.3:p.Trp1715Ter", "hgvsWellDefined": "NP_008851.3:p.Trp1715_Lys1998delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696855" }, { "coordinates": [ { "allele": "A", "end": 5594, "referenceAllele": "G", "start": 5593 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NR_148667.2:n.5594G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704821" }, { "@id": "http://reg.genome.network/allele/PA2826010939", "coordinates": [ { "allele": "A", "end": 5655, "referenceAllele": "G", "start": 5654 } ], "gene": "http://reg.genome.network/gene/GN010585", "geneNCBI_id": 6323, "geneSymbol": "SCN1A", "hgvs": [ "NM_001165963.4:c.5177G>A" ], "proteinEffect": { "hgvs": "NP_001159435.1:p.Trp1726Ter", "hgvsWellDefined": "NP_001159435.1:p.Trp1726_Lys2009delinsAspGlyLeuLeuAlaProIleLeuAsnSerLysProProAspCysAspProAsnLysValAsnProGlySerSerValLysGlyAspCysGlyAsnProSerValGlyIlePhePhePheValSerTyrIleIleIleSerPheLeuValValValAsnMetTyrIleAlaValIleLeuGluAsnPheSerValAlaThrGluGluSerAlaGluProLeuSerGluAspAspPheGluMetPheTyrGluValTrpGluLysPheAspProAspAlaThrGlnPheMetGluPheGluLysLeuSerGlnPheAlaAlaAlaLeuGluProProLeuAsnLeuProGlnProAsnLysLeuGlnLeuIleAlaMetAspLeuProMetValSerGlyAspArgIleHisCysLeuAspIleLeuPheAlaPheThrLysArgValLeuGlyGluSerGlyGluMetAspAlaLeuArgIleGlnMetGluGluArgPheMetAlaSerAsnProSerLysValSerTyrGlnProIleThrThrThrLeuLysArgLysGlnGluGluValSerAlaValIleIleGlnArgAlaTyrArgArgHisLeuLeuLysArgThrValLysGlnAlaSerPheThrTyrAsnLysAsnLysIleLysGlyGlyAlaAsnLeuLeuIleLysGluAspMetIleIleAspArgIleAsnGluAsnSerIleThrGluLysThrAspLeuThrMetSerThrAlaAlaCysProProSerTyrAspArgValThrLysProIleValGluLysHisGluGlnGluGlyLysAspGluLysAlaLysGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713154", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000674923.1:c.5177G>A" }, "RefSeq": { "hgvs": "NM_001165963.4:c.5177G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501589.1:p.Trp1726Ter" }, "RefSeq": { "hgvs": "NP_001159435.1:p.Trp1726Ter" } } } } ], "type": "nucleotide" }