HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000473895.2:p.[Thr204Leu;Arg206_Val211delinsAspIleValTrpTrpCys;Tyr213_Ser233delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrVal] |
CA497925310
ENST00000604348.6:c.610del
|