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"http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "ENST00000392003.6:c.1285C>T" ], "proteinEffect": { "hgvs": "ENSP00000375860.2:p.Arg429Ter", "hgvsWellDefined": 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"http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "XM_024452684.1:c.1285C>T" ], "proteinEffect": { "hgvs": "XP_024308452.1:p.Arg429Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS586075" }, { "coordinates": [ { "allele": "T", "end": 2748, "referenceAllele": "C", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_004369.4:c.2506C>T" ], "proteinEffect": { "hgvs": "NP_004360.2:p.Arg836Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS696119", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000295550.9:c.2506C>T" }, "RefSeq": { "hgvs": "NM_004369.4:c.2506C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000295550.4:p.Arg836Ter" }, "RefSeq": { "hgvs": "NP_004360.2:p.Arg836Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830145259", "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057164.5:c.1285C>T" ], "proteinEffect": { "hgvs": "NP_476505.3:p.Arg429Ter", "hgvsWellDefined": "NP_476505.3:p.Arg429_Ile1036delinsAspIleLeuPheLeuPheAspGlySerAlaAsnLeuValGlyGlnPheProValValArgAspPheLeuTyrLysIleIleAspGluLeuAsnValLysProGluGlyThrArgIleAlaValAlaGlnTyrSerAspAspValLysValGluSerArgPheAspGluHisGlnSerLysProGluIleLeuAsnLeuValLysArgMetLysIleLysThrGlyLysAlaLeuAsnLeuGlyTyrAlaLeuAspTyrAlaGlnArgTyrIlePheValLysSerAlaGlySerArgIleGluAspGlyValLeuGlnPheLeuValLeuLeuValAlaGlyArgSerSerAspArgValAspGlyProAlaSerAsnLeuLysGlnSerGlyValValProPheIlePheGlnAlaLysAsnAlaAspProAlaGluLeuGluGlnIleValLeuSerProAlaPheIleLeuAlaAlaGluSerLeuProLysIleGlyAspLeuHisProGlnIleValAsnLeuLeuLysSerValHisAsnGlyAlaProAlaProValSerGlyGluLysAspValValPheLeuLeuAspGlySerGluGlyValArgSerGlyPheProLeuLeuLysGluPheValGlnArgValValGluSerLeuAspValGlyGlnAspArgValArgValAlaValValGlnTyrSerAspArgThrArgProGluPheTyrLeuAsnSerTyrMetAsnLysGlnAspValValAsnAlaValArgGlnLeuThrLeuLeuGlyGlyProThrProAsnThrGlyAlaAlaLeuGluPheValLeuArgAsnIleLeuValSerSerAlaGlySerArgIleThrGluGlyValProGlnLeuLeuIleValLeuThrAlaAspArgSerGlyAspAspValArgAsnProSerValValValLysArgGlyGlyAlaValProIleGlyIleGlyIleGlyAsnAlaAspIleThrGluMetGlnThrIleSerPheIleProAspPheAlaValAlaIleProThrPheArgGlnLeuGlyThrValGlnGlnValIleSerGluArgValThrGlnLeuThrArgGluGluLeuSerArgLeuGlnProValLeuGlnProLeuProSerProGlyValGlyGlyLysArgAspValValPheLeuIleAspGlySerGlnSerAlaGlyProGluPheGlnTyrValArgThrLeuIleGluArgLeuValAspTyrLeuAspValGlyPheAspThrThrArgValAlaValIleGlnPheSerAspAspProLysValGluPheLeuLeuAsnAlaHisSerSerLysAspGluValGlnAsnAlaValGlnArgLeuArgProLysGlyGlyArgGlnIleAsnValGlyAsnAlaLeuGluTyrValSerArgAsnIlePheLysArgProLeuGlySerArgIleGluGluGlyValProGlnPheLeuValLeuIleSerSerGlyLysSerAspAspGluValAspAspProAlaValGluLeuLysGlnPheGlyValAlaProPheThrIleAlaArgAsnAlaAspGlnGluGluLeuValLysIleSerLeuSerProGluTyrValPheSerValSerThrPheArgGluLeuProSerLeuGluGlnLysLeuLeuThrProIleThrThrLeuThrSerGluGlnIleGlnLysLeuLeuAlaSerThrArgTyrProProProGlyGluMetGlyAlaSerGluValLeuLeuGlyAlaPheSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699472" }, { "@id": "http://reg.genome.network/allele/PA2830146179", "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "C", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057165.5:c.1888C>T" ], "proteinEffect": { "hgvs": "NP_476506.3:p.Arg630Ter", "hgvsWellDefined": "NP_476506.3:p.Arg630_Ile1237delinsAspIleLeuPheLeuPheAspGlySerAlaAsnLeuValGlyGlnPheProValValArgAspPheLeuTyrLysIleIleAspGluLeuAsnValLysProGluGlyThrArgIleAlaValAlaGlnTyrSerAspAspValLysValGluSerArgPheAspGluHisGlnSerLysProGluIleLeuAsnLeuValLysArgMetLysIleLysThrGlyLysAlaLeuAsnLeuGlyTyrAlaLeuAspTyrAlaGlnArgTyrIlePheValLysSerAlaGlySerArgIleGluAspGlyValLeuGlnPheLeuValLeuLeuValAlaGlyArgSerSerAspArgValAspGlyProAlaSerAsnLeuLysGlnSerGlyValValProPheIlePheGlnAlaLysAsnAlaAspProAlaGluLeuGluGlnIleValLeuSerProAlaPheIleLeuAlaAlaGluSerLeuProLysIleGlyAspLeuHisProGlnIleValAsnLeuLeuLysSerValHisAsnGlyAlaProAlaProValSerGlyGluLysAspValValPheLeuLeuAspGlySerGluGlyValArgSerGlyPheProLeuLeuLysGluPheValGlnArgValValGluSerLeuAspValGlyGlnAspArgValArgValAlaValValGlnTyrSerAspArgThrArgProGluPheTyrLeuAsnSerTyrMetAsnLysGlnAspValValAsnAlaValArgGlnLeuThrLeuLeuGlyGlyProThrProAsnThrGlyAlaAlaLeuGluPheValLeuArgAsnIleLeuValSerSerAlaGlySerArgIleThrGluGlyValProGlnLeuLeuIleValLeuThrAlaAspArgSerGlyAspAspValArgAsnProSerValValValLysArgGlyGlyAlaValProIleGlyIleGlyIleGlyAsnAlaAspIleThrGluMetGlnThrIleSerPheIleProAspPheAlaValAlaIleProThrPheArgGlnLeuGlyThrValGlnGlnValIleSerGluArgValThrGlnLeuThrArgGluGluLeuSerArgLeuGlnProValLeuGlnProLeuProSerProGlyValGlyGlyLysArgAspValValPheLeuIleAspGlySerGlnSerAlaGlyProGluPheGlnTyrValArgThrLeuIleGluArgLeuValAspTyrLeuAspValGlyPheAspThrThrArgValAlaValIleGlnPheSerAspAspProLysValGluPheLeuLeuAsnAlaHisSerSerLysAspGluValGlnAsnAlaValGlnArgLeuArgProLysGlyGlyArgGlnIleAsnValGlyAsnAlaLeuGluTyrValSerArgAsnIlePheLysArgProLeuGlySerArgIleGluGluGlyValProGlnPheLeuValLeuIleSerSerGlyLysSerAspAspGluValAspAspProAlaValGluLeuLysGlnPheGlyValAlaProPheThrIleAlaArgAsnAlaAspGlnGluGluLeuValLysIleSerLeuSerProGluTyrValPheSerValSerThrPheArgGluLeuProSerLeuGluGlnLysLeuLeuThrProIleThrThrLeuThrSerGluGlnIleGlnLysLeuLeuAlaSerThrArgTyrProProProGlyGluMetGlyAlaSerGluValLeuLeuGlyAlaPheSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699473" }, { "coordinates": [ { "allele": "T", "end": 927, "referenceAllele": "C", "start": 926 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057166.5:c.685C>T" ], "proteinEffect": { "hgvs": "NP_476507.3:p.Arg229Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS699474" }, { "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "C", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN002213", "geneNCBI_id": 1293, "geneSymbol": "COL6A3", "hgvs": [ "NM_057167.4:c.1888C>T" ], "proteinEffect": { "hgvs": "NP_476508.2:p.Arg630Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS729011" } ], "type": "nucleotide" }