HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001356322.1:p.[Lys244_Lys247del;Pro249_Arg251del;Ser253_Lys254del;Lys271del;His279_Ser280delinsGln;Ser282_Lys284delinsAsp;Pro286_Pro288delinsGlnArgArg;Leu290_Pro306del;Ser308_Pro310delinsGly;Pro312_Pro326delinsArg;Gly328_Ser330del;Glu332_Cys336del;Lys338_Thr343del;Pro345Gly;Val347Ser;Thr349del;Ala351_Ala354del] |