HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000414946.2:p.[Thr38_Val41delinsAsnValHisGlyAla;Arg43_Leu46delinsAlaProProGly;Gly49Pro;Val51_Leu52delinsPro;Arg54_Asn56delinsGlnSerGlu;Glu58_Ala67del] |
CA496149613
ENST00000422392.6:c.112dup
|