HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000504807.1:p.[Val454_Gln475delinsGlyArgArgLeuGlnProProProSerLeuTrpProAlaProCysTrpSerLeuLysCysSerSer;Phe477_Asp483delinsSerSerSerCysSerGlyThr] |
CA2573147265
ENST00000676670.1:c.1361del
|