HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001291646.4:p.[Lys427Arg;Glu429_Lys433delinsLeuProGlnThrGlu;Asn435_Leu438delinsAspAla;Asp441_Glu458delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArgGly] |
CA000566
NM_001304717.5:c.1280_1284del
|