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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000504197.1:p.Arg78_Ter79insSerArgMetArgAspGlyGlyPheValGluSerGlnLysAspProGluAsnSerProValValLeuTrpLeuAsnGlyGlyProGlyCysSerSerLeuAspGlyLeuLeuThrGluHisGlyProPheLeuValGlnProAspGlyValThrLeuGluTyrAsnProTyrSerTrpAsnLeuIleAlaAsnValLeuTyrLeuGluSerProAlaGlyValGlyPheSerTyrSerAspAspLysPheTyrAlaThrAsnAspThrGluValAlaGlnSerAsnPheGluAlaLeuGlnAspPhePheArgLeuPheProGluTyrLysAsnAsnLysLeuPheLeuThrGlyGluSerTyrAlaGlyIleTyrIleProThrLeuAlaValLeuValMetGlnAspProSerMetAsnLeuGlnGlyLeuAlaValGlyAsnGlyLeuSerSerTyrGluGlnAsnAspAsnSerLeuValTyrPheAlaTyrTyrHisGlyLeuLeuGlyAsnArgLeuTrpSerSerLeuGlnThrHisCysCysSerGlnAsnLysCysAsnPheTyrAspAsnLysAspLeuGluCysValThrAsnLeuGlnGluValAlaArgIleValGlyAsnSerGlyLeuAsnIleTyrAsnLeuTyrAlaProCysAlaGlyGlyValProSerHisPheArgTyrGluLysAspThrValValValGlnAspLeuGlyAsnIlePheThrArgLeuProLeuLysArgMetTrpHisGlnAlaLeuLeuArgSerGlyAspLysValArgMetAspProProCysThrAsnThrThrAlaAlaSerThrTyrLeuAsnAsnProTyrValArgLysAlaLeuAsnIleProGluGlnLeuProGlnTrpAspMetCysAsnPheLeuValAsnLeuGlnTyrArgArgLeuTyrArgSerMetAsnSerGlnTyrLeuLysLeuLeuSerSerGlnLysTyrGlnIleLeuLeuTyrAsnGlyAspValAspMetAlaCysAsnPheMetGlyAspGluTrpPheValAspSerLeuAsnGlnLysMetGluValGlnArgArgProTrpLeuValLysTyrGlyAspSerGlyGluGlnIleAlaGlyPheValLysGluPheSerHisIleAlaPheLeuThrIleLysGlyAlaGlyHisMetValProThrAspLysProLeuAlaAlaPheThrMetPheSerArgPheLeuAsnLysGlnProTyr |
CA2653100948
ENST00000677525.1:c.236G>C
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