HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000380950.1:p.[Val403_Arg429delinsAlaAspGlnCysProAspHisLeuProGlyGluGlyHisGlyHisArgValHisProGlyAlaValValCysHisProGly;Leu431del] |
CA2654866986
ENST00000397852.5:c.1206_1207del
|