HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000495.1:p.[Lys448_Tyr452delinsThrSer;Lys454_Val455delinsGlySer;Ala457_Arg464delinsProArgSerProProSerSer;Met466_Lys467delinsGlySer;Arg469del;Leu471del;Lys473_His477del] |
CA612868393
NM_000504.4:c.1342_1343insCC
|