HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000508207.1:p.[Ala407_Ser412delinsProLeuGlnLeuArgArgArgProAspGlyGlnProGlyLeuLeuProGlyLeuTrpArgArgProPro;Thr414delinsAlaLeuLeuLeuHis] |
CA2697548787
ENST00000683714.1:c.1218del
|