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Canonical Allele Identifier:
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Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000301948.6:p.[Pro127_Ala131del;Arg133_Asp147del;Ser149_Gly161del;Gly163del;Pro165_Pro182del;Thr184_Val212del;Glu214_Phe226del;Thr228del;Pro230_Gly232del;Ala234_Arg250del;Gly252_Glu298del;Val300_Lys305del;Lys307_Ser313del;Glu315_Val316del;Glu318_Ser357del;Ser359_Lys377del;Pro379del;Pro381_Ser411del;Cys413_Gly422del;Leu424_Glu425del;Asp427_Cys429del;Lys431_Lys449del;Lys451_Arg453del;Glu455Ter] |