HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000320.1:p.[His527_Gly528delinsMetAspCysSerLysAsn;Leu529_Phe530insGluHisThrProAlaArgTyrVal;Phe530_Lys531insGlySer;Lys531_Lys532insThrGlu;Lys532_Ser533insIle;Ser533_Ter534insPheArgSerAlaIle] |
CA902127
NM_000329.3:c.1578del
|