HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000374.1:p.[Arg247_Pro254delinsProAlaAlaAlaValAlaArgSer;Val256_Gly263delinsTrpPheGluProArgGluProArg;Ala265Leu;Gly267_Gly269delinsProVal;Ala271Val;Gln275_Gln276delinsTrpAlaSerArg] |
CA749679242
NM_000383.4:c.738_739dup
|