HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Asp342_Asp360delinsThrAlaSerSerTrpTrpProSerGluAspAlaLysIleSerMetSerValArgIle;Asp362del;Cys364_Leu371delinsProAlaAlaSerSerAla] |
CA915951669
NM_000527.5:c.1023del
|