HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000356367.1:p.[Ser40_Ala49delinsLysCysGln;Cys51_Val52del;Lys54_Trp56delinsLeu;Ser59_Arg65delinsLys;Arg67_Asn70del;Trp72_Ser74delinsVal] |
CA2499214385
ENST00000367397.1:c.117_133del
|