HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_055134.2:p.[Ala199_Arg200delinsProGlyGly;Pro202Arg;Gly204del;Glu206_Pro211delinsSerCysArgProArgArg;Asp214_Glu221delinsMetGluGlnTrpArgThrArgLys;Glu223_Glu228delinsArgGluArgThrValArg] |
CA2619668221
NM_014319.5:c.595del
|