HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001171147.1:p.[Cys40del;Ser42_Tyr47delinsProValProLeuLeuArg;Gln49_Asn54delinsProAlaAspGlnGlyPro;Leu56delinsArgAla;Gly57_Val58insArg;Tyr59_Asp67delinsProValGlnProAspGlyGlyArgPro;Phe69del] |
CA265534566
NM_001177676.2:c.117dup
|