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"NP_001362540.1:p.Lys193_Pro461delinsArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693705" }, { "coordinates": [ { "allele": "T", "end": 823, "referenceAllele": "A", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN009451", "geneNCBI_id": 5624, "geneSymbol": "PROC", "hgvs": [ "NM_001375613.1:c.577A>T" ], "proteinEffect": { "hgvs": "NP_001362542.1:p.Lys193Ter", "hgvsWellDefined": "NP_001362542.1:p.Lys193_Pro461delinsArgSerHisLeuLysArgAspThrGluAspGlnGluAspGlnValAspProArgLeuIleAspGlyLysMetThrArgArgGlyAspSerProTrpGlnValValLeuLeuAspSerLysLysLysLeuAlaCysGlyAlaValLeuIleHisProSerTrpValLeuThrAlaAlaHisCysMetAspGluSerLysLysLeuLeuValArgLeuGlyGluTyrAspLeuArgArgTrpGluLysTrpGluLeuAspLeuAspIleLysGluValPheValHisProAsnTyrSerLysSerThrThrAspAsnAspIleAlaLeuLeuHisLeuAlaGlnProAlaThrLeuSerGlnThrIleValProIleCysLeuProAspSerGlyLeuAlaGluArgGluLeuAsnGlnAlaGlyGlnGluThrLeuValThrGlyTrpGlyTyrHisSerSerArgGluLysGluAlaLysArgAsnArgThrPheValLeuAsnPheIleLysIleProValValProHisAsnGluCysSerGluValMetSerAsnMetValSerGluAsnMetLeuCysAlaGlyIleLeuGlyAspArgGlnAspAlaCysGluGlyAspSerGlyGlyProMetValAlaSerPheHisGlyThrTrpPheLeuValGlyLeuValSerTrpGlyGluGlyCysGlyLeuLeuHisAsnTyrGlyValTyrThrLysValSerArgTyrLeuAspTrpIleHisGlyHisIleArgAspLysGluAlaProGlnLysSerTrpAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693707" } ], "type": "nucleotide" }