HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000448059.1:p.[Val245dup;Gly247_Leu248delinsCysPhePro;Ser250_Phe263delinsGlyIleSerTrpValAlaTrpProSerGluSerSerThrAla;Cys265Ser;Gln267_Gly272delinsSerAspMetAspPro;Lys274del] |
CA229729
ENST00000553106.6:c.737del
|