HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Leu15_Ala19delinsProArgArgGly;Thr21_Val23delinsAspCysSer;Asp25del;Cys27_Glu28delinsGlnMet;Asn30_Trp44delinsLysLysArgValProValProArgArgGluMetHisLeuLeuGln;Val45_Cys46insGly] |
CA2497030115
NM_000527.5:c.44_45del
|