HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000500264.1:p.[Ser439_Glu442delinsAlaSer;Phe444_Ala446delinsSerGly;Val448_Thr452delinsMet;Ser454Ala;Glu456_Glu464delinsAla;Ser466_Arg468del] |
CA2573142178
ENST00000671824.1:c.1314del
|