HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182732.1:p.[Phe217_Asp233delinsSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp235del;Cys237_Gly246delinsProAlaAlaSerSerAla] |
CA10585259
NM_001195803.2:c.650del
|