HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000518.1:p.[Phe807_Trp813delinsTyrGlyArgThrGlyGlyLeu;Leu815_Asn819delinsThrSerThrAla;Ile821_Asn825delinsThrLeuThrThr;Val827_Ile838delinsSerIleArgArgProGlnArgMetArgSerThrPhe] |
CA10585863
NM_000527.5:c.2420_2426del
|