HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000506852.1:p.[Ala1246Val;Tyr1248_Phe1254delinsAsnLeuSerLeuIlePheSer;Leu1256_Asp1260delinsAsnLeuTrpMetGln;Gly1262_Ala1269delinsArgTrpMetMetProGlu;Leu1271_Val1276delinsSerTyrArgHisGlnLeu] |
CA2658834375
ENST00000683833.1:c.3737_3740del
|