HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000320.1:p.[Leu487_Ser492delinsGluCysGlyGlyGlu;Gly494_Gln497delinsArgSerArgThr;Pro499del;Tyr501Cys;Leu503_Lys508delinsSerPro;Leu510del;Val513_Ala516delinsCysGlnGlyLeuLys] |
CA2580612188
NM_000329.3:c.1459_1460del
|