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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000338009.4:p.[Ile50_Arg52delinsGluArgHis;Cys55delinsProArgLeuArg;Ser57Arg;Ser59_Thr60delinsTyrAla;Ala62Cys;Met65_Ala68delinsValLeuGly;Leu70_Ala71delinsAlaGly;Val73_Glu79delinsArgHisGlnProHisAlaArg] |
CA2695203048
ENST00000336642.8:c.147_148insGAGCGAC
|