HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000482149.1:p.[Ser417_Glu420delinsAlaSer;Phe422_Ala424delinsSerGly;Val426_Thr430delinsMet;Ser432Ala;Glu434_Glu442delinsAla;Ser444_Arg446del] |
CA2573142178
ENST00000616242.4:c.1248del
|