HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000506646.1:p.[Asn38_Ala50delinsMetArgValProValSerSerTrpGlnArgProMetPro;Lys52Ser;Asp55Thr;Thr57_Thr67delinsProSerTyrLeuLeuGlnPheArgProArgHis] |
CA2650971418
ENST00000679957.1:c.113del
|