HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000478499.1:p.[Gln199_Ser203delinsArgThrArgProAla;Gln205Lys;Lys206_Glu207insLysIleValLys;Asn208_Cys209delinsSerMetLysMetValLeu] |
CA497713744
ENST00000510385.5:c.594del
|