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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000395535.2:p.[Pro139_Ala143del;Arg145_Asp159del;Ser161_Gly173del;Gly175del;Pro177_Pro194del;Thr196_Val224del;Glu226_Phe238del;Thr240del;Pro242_Gly244del;Ala246_Arg262del;Gly264_Glu310del;Val312_Lys317del;Lys319_Ser325del;Glu327_Val328del;Glu330_Ser369del;Ser371_Lys389del;Pro391del;Pro393_Ser423del;Cys425_Gly434del;Leu436_Glu437del;Asp439_Cys441del;Lys443_Lys461del;Lys463_Arg465del;Glu467Ter] |