HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000268.1:p.[Val245dup;Gly247_Leu248delinsCysPhePro;Ser250_Phe263delinsGlyIleSerTrpValAlaTrpProSerGluSerSerThrAla;Cys265Ser;Gln267_Gly272delinsSerAspMetAspPro;Lys274del] |
CA229729
NM_000277.3:c.737del
|