HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001002295.1:p.[Glu228_Ser230delinsThrThrPro;Gly232_Phe234delinsProProThrArg;Pro235_Pro236insThrCys;Ser238_Gly242delinsThrAlaProAspSer;Thr245_Arg252delinsProAlaAlaCysTrpAlaAlaPro;Lys254Pro;Arg256delinsSerAspAla;Ser257_Ser258insProGlyProArgProGly] |
CA2580081317
NM_001002295.2:c.647_681dup
|