HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000456591.1:p.His165_Leu195delinsGlnArgValMetArgThrThrAlaThrSerGlyProSerArgProAlaLeuArgProSerThrThrSerThrTrpArgThrTrpThrSer |
CA2630855516
ENST00000567173.5:c.495del
|