HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514686.1:p.[Asn176del;Lys178_Glu181delinsLeuArgArgTrp;Ser183_Gly205delinsLeuLeuThrLeuSerProArgLeuGluCysSerGlyAlaIleSerAlaHisCysAsnLeuHisLeuLeu] |
CA2499218978
ENST00000699918.1:c.525del
|