HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000219548.4:p.His184_Leu214delinsGlnArgValMetArgThrThrAlaThrSerGlyProSerArgProAlaLeuArgProSerThrThrSerThrTrpArgThrTrpThrSer |
CA2630855516
ENST00000219548.9:c.552del
|