HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501803.1:p.[Gln517_Thr534delinsGluHisLeuGlyLeuArgGluGlnProAlaTyrGlySerHisGlnLeuHisTrp;Glu536_Arg545delinsArgSerGlyHisAlaGlnAlaGlyAlaLeu] |
CA2580611220
ENST00000675667.1:c.1549_1550del
|