HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_598006.1:p.[Leu481_Arg484delinsIleAlaAlaAla;Pro486Ala;Gln488Ala;Gln490_Pro498delinsProAlaAlaProPheArgProTrpThr;Ala500_Ser502delinsSerTrpGln;Leu504delinsProAla;Gln506_Pro509delinsAlaProSerLys] |
CA658684300
NM_133499.2:c.1439dup
|