HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000359732.3:p.[His171Leu;Phe173_Ala183delinsSerLysSerTrpValTyrProSerIleArg;Leu185_Cys191delinsSerTrpAsnSerAsnPheLeu;Val193_Cys201delinsArgTyrTrpValAsnAsnValTrpLeu] |
CA121512
ENST00000370698.7:c.512_513del
|