HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000502467.1:p.[Glu305_Glu318delinsArgValCysArgGlyMetAlaArgAlaArgArgSerThrArg;Glu320_Tyr325delinsLysAlaArgMetAlaThr;Lys327_Asp334delinsSerTrpAlaAspArgMetAlaThr] |
CA2586969978
ENST00000675069.1:c.913del
|