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"http://reg.genome.network/allele/PA2828164466", "coordinates": [ { "allele": "T", "end": 916, "referenceAllele": "G", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN000775", "geneNCBI_id": 462, "geneSymbol": "SERPINC1", "hgvs": [ "NM_001365052.1:c.535G>T" ], "proteinEffect": { "hgvs": "NP_001351981.1:p.Glu179Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN000775", "geneNCBI_id": 462, "geneSymbol": "SERPINC1", "hgvs": [ "NM_000488.4:c.679G>T" ], "proteinEffect": { "hgvs": "NP_000479.1:p.Glu227Ter", "hgvsWellDefined": "NP_000479.1:p.Glu227_Lys464delinsGlyArgIleThrAspValIleProSerGluAlaIleAsnGluLeuThrValLeuValLeuValAsnThrIleTyrPheLysGlyLeuTrpLysSerLysPheSerProGluAsnThrArgLysGluLeuPheTyrLysAlaAspGlyGluSerCysSerAlaSerMetMetTyrGlnGluGlyLysPheArgTyrArgArgValAlaGluGlyThrGlnValLeuGluLeuProPheLysGlyAspAspIleThrMetValLeuIleLeuProLysProGluLysSerLeuAlaLysValGluLysGluLeuThrProGluValLeuGlnGluTrpLeuAspGluLeuGluGluMetMetLeuValValHisMetProArgPheArgIleGluAspGlyPheSerLeuLysGluGlnLeuGlnAspMetGlyLeuValAspLeuPheSerProGluLysSerLysLeuProGlyIleValAlaGluGlyArgAspAspLeuTyrValSerAspAlaPheHisLysAlaPheLeuGluValAsnGluGluGlySerGluAlaAlaAlaSerThrAlaValValIleAlaGlyArgSerLeuAsnProAsnArgValThrPheLysAlaAsnArgProPheLeuValPheIleArgGluValProLeuAsnThrIleIlePheMetGlyArgValAlaAsnProCysValLysTer" }, "referenceSequence": 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"http://reg.genome.network/allele/PA2580246001", "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN000775", "geneNCBI_id": 462, "geneSymbol": "SERPINC1", "hgvs": [ "NM_001386303.1:c.760G>T" ], "proteinEffect": { "hgvs": "NP_001373232.1:p.Glu254Ter", "hgvsWellDefined": "NP_001373232.1:p.Glu254_Lys491delinsGlyArgIleThrAspValIleProSerGluAlaIleAsnGluLeuThrValLeuValLeuValAsnThrIleTyrPheLysGlyLeuTrpLysSerLysPheSerProGluAsnThrArgLysGluLeuPheTyrLysAlaAspGlyGluSerCysSerAlaSerMetMetTyrGlnGluGlyLysPheArgTyrArgArgValAlaGluGlyThrGlnValLeuGluLeuProPheLysGlyAspAspIleThrMetValLeuIleLeuProLysProGluLysSerLeuAlaLysValGluLysGluLeuThrProGluValLeuGlnGluTrpLeuAspGluLeuGluGluMetMetLeuValValHisMetProArgPheArgIleGluAspGlyPheSerLeuLysGluGlnLeuGlnAspMetGlyLeuValAspLeuPheSerProGluLysSerLysLeuProGlyIleValAlaGluGlyArgAspAspLeuTyrValSerAspAlaPheHisLysAlaPheLeuGluValAsnGluGluGlySerGluAlaAlaAlaSerThrAlaValValIleAlaGlyArgSerLeuAsnProAsnArgValThrPheLysAlaAsnArgProPheLeuValPheIleArgGluValProLeuAsnThrIleIlePheMetGlyArgValAlaAsnProCysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724489" }, { "@id": "http://reg.genome.network/allele/PA2829109398", "coordinates": [ { "allele": "T", "end": 747, "referenceAllele": "G", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN000775", "geneNCBI_id": 462, "geneSymbol": "SERPINC1", "hgvs": [ "NM_001386304.1:c.679G>T" ], "proteinEffect": { "hgvs": "NP_001373233.1:p.Glu227Ter", "hgvsWellDefined": "NP_001373233.1:p.Glu227_Lys457delinsGlyArgIleThrAspValIleProSerGluAlaIleAsnGluLeuThrValLeuValLeuGlyLeuTrpLysSerLysPheSerProGluAsnThrArgLysGluLeuPheTyrLysAlaAspGlyGluSerCysSerAlaSerMetMetTyrGlnGluGlyLysPheArgTyrArgArgValAlaGluGlyThrGlnValLeuGluLeuProPheLysGlyAspAspIleThrMetValLeuIleLeuProLysProGluLysSerLeuAlaLysValGluLysGluLeuThrProGluValLeuGlnGluTrpLeuAspGluLeuGluGluMetMetLeuValValHisMetProArgPheArgIleGluAspGlyPheSerLeuLysGluGlnLeuGlnAspMetGlyLeuValAspLeuPheSerProGluLysSerLysLeuProGlyIleValAlaGluGlyArgAspAspLeuTyrValSerAspAlaPheHisLysAlaPheLeuGluValAsnGluGluGlySerGluAlaAlaAlaSerThrAlaValValIleAlaGlyArgSerLeuAsnProAsnArgValThrPheLysAlaAsnArgProPheLeuValPheIleArgGluValProLeuAsnThrIleIlePheMetGlyArgValAlaAsnProCysValLysTer" }, "referenceSequence": 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"NP_001373234.1:p.Glu227_Lys445delinsGlyArgIleThrAspValIleProSerGluAlaIleAsnGluLeuThrValLeuValLeuValAsnThrIleTyrPheLysAlaAspGlyGluSerCysSerAlaSerMetMetTyrGlnGluGlyLysPheArgTyrArgArgValAlaGluGlyThrGlnValLeuGluLeuProPheLysGlyAspAspIleThrMetValLeuIleLeuProLysProGluLysSerLeuAlaLysValGluLysGluLeuThrProGluValLeuGlnGluTrpLeuAspGluLeuGluGluMetMetLeuValValHisMetProArgPheArgIleGluAspGlyPheSerLeuLysGluGlnLeuGlnAspMetGlyLeuValAspLeuPheSerProGluLysSerLysLeuProGlyIleValAlaGluGlyArgAspAspLeuTyrValSerAspAlaPheHisLysAlaPheLeuGluValAsnGluGluGlySerGluAlaAlaAlaSerThrAlaValValIleAlaGlyArgSerLeuAsnProAsnArgValThrPheLysAlaAsnArgProPheLeuValPheIleArgGluValProLeuAsnThrIleIlePheMetGlyArgValAlaAsnProCysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724491" }, { "@id": "http://reg.genome.network/allele/PA2829109825", "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN000775", "geneNCBI_id": 462, "geneSymbol": "SERPINC1", "hgvs": [ "NM_001386306.1:c.463G>T" ], "proteinEffect": { "hgvs": "NP_001373235.1:p.Glu155Ter", "hgvsWellDefined": "NP_001373235.1:p.Glu155_Lys392delinsGlyArgIleThrAspValIleProSerGluAlaIleAsnGluLeuThrValLeuValLeuValAsnThrIleTyrPheLysGlyLeuTrpLysSerLysPheSerProGluAsnThrArgLysGluLeuPheTyrLysAlaAspGlyGluSerCysSerAlaSerMetMetTyrGlnGluGlyLysPheArgTyrArgArgValAlaGluGlyThrGlnValLeuGluLeuProPheLysGlyAspAspIleThrMetValLeuIleLeuProLysProGluLysSerLeuAlaLysValGluLysGluLeuThrProGluValLeuGlnGluTrpLeuAspGluLeuGluGluMetMetLeuValValHisMetProArgPheArgIleGluAspGlyPheSerLeuLysGluGlnLeuGlnAspMetGlyLeuValAspLeuPheSerProGluLysSerLysLeuProGlyIleValAlaGluGlyArgAspAspLeuTyrValSerAspAlaPheHisLysAlaPheLeuGluValAsnGluGluGlySerGluAlaAlaAlaSerThrAlaValValIleAlaGlyArgSerLeuAsnProAsnArgValThrPheLysAlaAsnArgProPheLeuValPheIleArgGluValProLeuAsnThrIleIlePheMetGlyArgValAlaAsnProCysValLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS724492" } ], "type": "nucleotide" }