HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000392.3:p.[Val187Pro;Ile190_Val192delinsMetCys;Asn194_Asn196delinsThrArg;Leu198_Leu210delinsHisCysAlaSerArgArgGlnHisLysArgTrpProSer;Arg212_Thr217delinsLeuGlyGlyIleGluVal] |
CA916081632
NM_000401.3:c.558_561del
|