HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004983.1:p.[His372_Ser373delinsGln;Ser375_Lys377delinsAsp;Pro379_Pro381delinsGlnArgArg;Leu383_Pro399del;Ser401_Pro403delinsGly;Pro405_Pro419delinsArg;Gly421_Ser423del;Glu425_Cys429del;Lys431_Thr436del;Pro438Gly;Val440Ser;Thr442del;Ala444_Ala447del] |