HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000223366.2:p.[His417Thr;Ser419_Glu422delinsAlaSer;Phe424_Ala426delinsSerGly;Val428_Thr432delinsMet;Ser434Ala;Glu436_Glu444delinsAla;Ser446del] |
CA2573052876
ENST00000345378.7:c.1248del
|