HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000438039.1:p.[Leu228_Tyr229del;Gly231_Pro232delinsLeu;Phe235_Asp237delinsAlaPhePro;Tyr239Cys;Ala241_Val245delinsSerValTrpArgProGlu;Arg247_Lys250delinsSerGlyProAlaGlnGluIle] |
CA2576696524
ENST00000492433.1:c.681dup
|