HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001280143.1:p.[Leu229_Thr230del;Arg232_Arg238delinsProAlaValGlu;Leu240_Pro243delinsSerSerIle;Thr246Ser;Gln248_Met255delinsCysArgAsnSerProSerArgSerSer;Ala257_Ala258delinsProArgThr] |
CA2677889718
NM_001293214.2:c.684del
|