HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000252.1:p.[Glu418delinsArgGln;Asn420_Lys423delinsSerValSerSer;Val426_Tyr437delinsProMetProSerSerSerValAlaProCys;Val439Pro;Ser441_Tyr442delinsAlaAla;Ser444_Ala447delinsProGlnGlnMetLeu] |
CA2649105997
NM_000261.2:c.1252del
|