HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000500264.1:p.[Ala477_Cys478insValArgArgProVal;Lys479delinsTrpAlaSerGluSerSerGlyArg;Lys480_Ala481insArgArgGluAsp;Cys482_Leu484delinsThrAlaProGlnHisPro;Gln486delinsSerMet] |
CA2017997779
ENST00000671824.1:c.1431del
|