HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_002247.3:p.[Glu48_Leu51delinsGlyAlaGlu;Cys53_Glu55delinsAlaValHis;Lys57_Pro58delinsGluGlu;Ala60_Ser70delinsSerCysTyrCysGlnAlaGluProSerGlyAsp;Ser72_Pro73delinsAlaVal;Pro74_Pro75insAla;Glu76_Ser77delinsArgGlu] |
CA1011398394
NM_002256.4:c.142dup
|