HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000320.1:p.[Leu529_Phe530insLeuLysAsnLeuGluHisThrProAlaArgTyrVal;Phe530_Lys531insGlySer;Lys531_Lys532insThrGlu;Lys532_Ser533insIleSerPheArgSerAlaIleLysPheCys] |
CA226522
NM_000329.3:c.1590del
|