HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000467.1:p.[Val47del;Ser49_Ser51delinsAlaGln;Gly54_Leu57delinsProGlyAlaArg;Glu59_Lys63delinsCysArgLysSerTrpArgArg;Gln65_Leu76delinsSerTrpPheHisTrpArgGlnCysTrpThrCysSer] |
CA128019
NM_000476.3:c.139del
|