HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000834.2:p.[Arg120_Arg129delinsAlaAlaThrAlaThrArgTrpAla;Pro131_Pro136delinsAlaAlaArgGluAlaSer;Pro139Cys;Pro141_Pro142insArg;Glu143_Val149delinsProSerAlaSerTrpProSerTrp] |
CA2769630295
NM_000843.3:c.358del
|