HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000384420.1:p.[Val497_Gln518delinsGlyArgArgLeuGlnProProProSerLeuTrpProAlaProCysTrpSerLeuLysCysSerSer;Phe520_Asp526delinsSerSerSerCysSerGlyThr] |
CA2573147265
ENST00000403558.1:c.1490del
|