HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000401045.2:p.[Glu340_Ile355delinsGlyGlnProTrpProSerTrpProProArgArgProArgProPro;His357_Val369delinsAlaThrArgProSerArgSerTrpAlaAlaTrpAlaThr] |
CA16041573
ENST00000411593.2:c.1019del
|