HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000457228.1:p.His112_Leu142delinsGlnArgValMetArgThrThrAlaThrSerGlyProSerArgProAlaLeuArgProSerThrThrSerThrTrpArgThrTrpThrSer |
CA2630855516
ENST00000565677.5:c.336del
|