HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001093243.1:p.[Asp192_Val216delinsValCysCysGlyGlnArgSerTrpLeuArgGlyThrArgProArgGluThrTrpProArgCysTyrSerTrpSer;Leu218_Leu219delinsSerSer;Ala221Pro] |
CA2629468526
NM_001099773.2:c.575del
|