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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000407375.1:p.Leu48_Ter49insCysGlyThrThrValArgAspTyrThrGlnMetAsnGluLeuGlnArgArgLeuGlyProArgGlyLeuValValLeuGlyPheProCysAsnGlnPheGlyHisGlnGluAsnAlaLysAsnGluGluIleLeuAsnSerLeuLysTyrValArgProGlyGlyGlyPheGluProAsnPheMetLeuPheGluLysCysGluValAsnGlyAlaGlyAlaHisProLeuPheAlaPheLeuArgGluAlaLeuProAlaProSerAspAspAlaThrAlaLeuMetThrAspProLysLeuIleThrTrpSerProValCysArgAsnAspValAlaTrpAsnPheGluLysPheLeuValGlyProAspGlyValProLeuArgArgTyrSerArgArgPheGlnThrIleAspIleGluProAspIleGluAlaLeuLeuSerGlnGlyProSerCysAla |
CA352783341
ENST00000419783.3:c.147A>T
CA352783343
ENST00000419783.3:c.147A>C
|