HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000392.3:p.[Leu185dup;Val187Pro;Ile190_Val192delinsMetCys;Asn194_Asn196delinsThrArg;Leu198_Leu210delinsHisCysAlaSerArgArgGlnHisLysArgTrpProSer;Arg212_Gly216delinsLeuGlyGlyIleGlu] |
CA2613201561
NM_000401.3:c.558del
|