HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000240.1:p.[Ile59_Gln62delinsAsnSer;Asn64_Ile68delinsProArgGlnTrpHis;Lys70_Glu71del;Leu73_Cys77delinsGln;Phe80_Thr82delinsArg;Lys84_Phe88delinsGlyTyrCysMet] |
CA330805
NM_000249.4:c.175dup
|