HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Val806_Arg814delinsArgSerSerPheTyrGlyArgThrGlyGly;Lys816_Asn825delinsArgThrSerThrAlaSerThrLeuThrThr;Val827_Val836delinsSerIleArgArgProGlnArgMetArg] |
CA2573050627
NM_000527.5:c.2416_2418delinsAGAAG
|