HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182729.1:p.[Asp174_Asp192delinsThrAlaSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp194del;Cys196_Leu203delinsProAlaAlaSerSerAla] |
CA915951669
NM_001195800.2:c.519del
|