HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001104262.1:p.[His384_Ser385delinsGln;Ser387_Lys389delinsAsp;Pro391_Pro393delinsGlnArgArg;Leu395_Pro411del;Ser413_Pro415delinsGly;Pro417_Pro431delinsArg;Gly433_Ser435del;Glu437_Cys441del;Lys443_Thr448del;Pro450Gly;Val452Ser;Thr454del;Ala456_Ala459del] |