HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514623.1:p.[Asn41del;Lys43_Glu46delinsLeuArgArgTrp;Ser48_Gly70delinsLeuLeuThrLeuSerProArgLeuGluCysSerGlyAlaIleSerAlaHisCysAsnLeuHisLeuLeu] |
CA2499218978
ENST00000699822.1:c.120del
|