HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000068.1:p.[Leu97_Ala100delinsCysThrGlyPro;Ala102del;Leu104_Trp110delinsGlyTrpThrCysAlaMetPro;Arg112_Leu113delinsAlaValCys;Val115_Val126delinsTrpThrTrpLeuArgSerTrpAlaIleAlaMetSer] |
CA464261911
NM_000077.5:c.289del
|