HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000367574.4:p.[Val459_Gln480delinsGlyArgArgLeuGlnProProProSerLeuTrpProAlaProCysTrpSerLeuLysCysSerSer;Phe482_Asp488delinsSerSerSerCysSerGlyThr] |
CA2573147265
ENST00000378323.8:c.1376del
|