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"XP_011509921.1:p.Arg548_Phe1504delinsSerSerArgThrSerLeuPheSerPheLysGlyArgGlyArgAspIleGlySerGluThrGluPheAlaAspAspGluHisSerIlePheGlyAspAsnGluSerArgArgGlySerLeuPheValProHisArgProGlnGluArgArgSerSerAsnIleSerGlnAlaSerArgSerProProMetLeuProValAsnGlyLysMetHisSerAlaValAspCysAsnGlyValValSerLeuValAspGlyArgSerAlaLeuMetLeuProAsnGlyGlnLeuLeuProGluValIleIleAspLysAlaThrSerAspAspSerGlyThrThrAsnGlnIleHisLysLysArgArgCysSerSerTyrLeuLeuSerGluAspMetLeuAsnAspProAsnLeuArgGlnArgAlaMetSerArgAlaSerIleLeuThrAsnThrValGluGluLeuGluGluSerArgGlnLysCysProProTrpTrpTyrArgPheAlaHisLysPheLeuIleTrpAsnCysSerProTyrTrpIleLysPheLysLysCysIleTyrPheIleValMetAspProPheValAspLeuAlaIleThrIleCysIleValLeuAsnThrLeuPheMetAlaMetGluHisHisProMetThrGluGluPheLysAsnValLeuAlaIleGlyAsnLeuValPheThrGlyIlePheAlaAlaGluMetValLeuLysLeuIleAlaMetAspProTyrGluTyrPheGlnValGlyTrpAsnIlePheAspSerLeuIleValThrLeuSerLeuValGluLeuPheLeuAlaAspValGluGlyLeuSerValLeuArgSerPheArgLeuLeuArgValPheLysLeuAlaLysSerTrpProThrLeuAsnMetLeuIleLysIleIleGlyAsnSerValGlyAlaLeuGlyAsnLeuThrLeuValLeuAlaIleIleValPheIlePheAlaValValGlyMetGlnLeuPheGlyLysSerTyrLysGluCysValCysLysIleAsnAspAspCysThrLeuProArgTrpHisMetAsnAspPhePheHisSerPheLeuIleValPheArgValLeuCysGlyGluTrpIleGluThrMetTrpAspCysMetGluValAlaGlyGlnAlaMetCysLeuIleValTyrMetMetValMetValIleGlyAsnLeuValValLeuAsnLeuPheLeuAlaLeuLeuLeuSerSerPheSerSerAspAsnLeuThrAlaIleGluGluAspProAspAlaAsnAsnLeuGlnIleAlaValThrArgIleLysLysGlyIleAsnTyrValLysGlnThrLeuArgGluPheIleLeuLysAlaPheSerLysLysProLysIleSerArgGluIleArgGlnAlaGluAspLeuAsnThrLysLysGluAsnTyrIleSerAsnHisThrLeuAlaGluMetSerLysGlyHisAsnPheLeuLysGluLysAspLysIleSerGlyPheGlySerSerValAspLysHisLeuMetGluAspSerAspGlyGlnSerPheIleHisAsnProSerLeuThrValThrValProIleAlaProGlyGluSerAspLeuGluAsnMetAsnAlaGluGluLeuSerSerAspSerAspSerGluTyrSerLysValArgLeuAsnArgSerSerSerSerGluCysSerThrValAspAsnProLeuProGlyGluGlyGluGluAlaGluAlaGluProMetAsnSerAspGluProGluAlaCysPheThrAspGlyCysValTrpArgPheSerCysCysGlnValAsnIleGluSerGlyLysGlyLysIleTrpTrpAsnIleArgLysThrCysTyrLysIleValGluHisSerTrpPheGluSerPheIleValLeuMetIleLeuLeuSerSerGlyAlaLeuAlaPheGluAspIleTyrIleGluArgLysLysThrIleLysIleIleLeuGluTyrAlaAspLysIlePheThrTyrIlePheIleLeuGluMetLeuLeuLysTrpIleAlaTyrGlyTyrLysThrTyrPheThrAsnAlaTrpCysTrpLeuAspPheLeuIleValAspValSerLeuValThrLeuValAlaAsnThrLeuGlyTyrSerAspLeuGlyProIleLysSerLeuArgThrLeuArgAlaLeuArgProLeuArgAlaLeuSerArgPheGluGlyMetArgValValValAsnAlaLeuIleGlyAlaIleProSerIleMetAsnValLeuLeuValCysLeuIlePheTrpLeuIlePheSerIleMetGlyValAsnLeuPheAlaGlyLysPheTyrGluCysIleAsnThrThrAspGlySerArgPheProAlaSerGlnValProAsnArgSerGluCysPheAlaLeuMetAsnValSerGlnAsnValArgTrpLysAsnLeuLysValAsnPheAspAsnValGlyLeuGlyTyrLeuSerLeuLeuGlnValAlaThrPheLysGlyTrpThrIleIleMetTyrAlaAlaValAspSerValAsnValAspLysGlnProLysTyrGluTyrSerLeuTyrMetTyrIleTyrPheValValPheIleIlePheGlySerPhePheThrLeuAsnLeuPheIleGlyValIleIleAspAsnPheAsnGlnGlnLysLysLysLeuGlyGlyGlnAspIlePheMetThrGluGluGlnLysLysTyrTyrAsnAlaMetLysLysLeuGlySerLysLysProGlnLysProIleProArgProGlyValCysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS542215" }, { "coordinates": [ { "allele": "T", "end": 1485, "referenceAllele": "C", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004668.1:c.1255C>T" ], "proteinEffect": { "hgvs": "XP_016860157.1:p.Arg419Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS560118" }, { "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XM_017004669.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_016860158.1:p.Arg300Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS560119" }, { "coordinates": [ { "allele": "T", "end": 1956, "referenceAllele": "C", "start": 1955 } ], "gene": "http://reg.genome.network/gene/GN010597", "geneNCBI_id": 6335, "geneSymbol": "SCN9A", "hgvs": [ "XR_001738886.1:n.1956C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS589322" } ], "type": "nucleotide" }