HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_006350.1:p.[His171Leu;Phe173_Ala183delinsSerLysSerTrpValTyrProSerIleArg;Leu185_Cys191delinsSerTrpAsnSerAsnPheLeu;Val193_Cys201delinsArgTyrTrpValAsnAsnValTrpLeu] |
CA121512
NM_006359.3:c.512_513del
|