HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001123914.1:p.[Glu49_Ala59delinsArgAspValProValGlyHisProGlyTyrArgArgPro;Gln61_Ser65delinsGlyValGlnArgHis;Met67_Met72delinsGlyProValHisAlaHis;Thr74del;Glu76del;Phe78Leu] |
CA2580083849
NM_001130442.3:c.144_145insC
|