HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001357015.1:p.[Trp248_His263delinsGlyArgLeuProTrpLysThrSerSerMetThrArgSerProSerThrPro;Ile265Gly;Pro267delinsGlyLys;Glu269_Asp272delinsMetThrTrpAla;Gly274_Pro275delinsGln;Gly277del] |
CA2580097969
NM_001370086.1:c.742del
|