HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000510194.2:p.[Gln493Val;Ser495_Tyr512delinsLeu;Glu514del;Arg516_Lys522delinsAlaTrpHisHis] |
CA325605
ENST00000685018.2:c.1477_1478del
|