HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000423862.2:p.[Thr118Leu;Arg120_Val125delinsAspIleValTrpTrpCys;Tyr127_Ser147delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrVal] |
CA497925310
ENST00000514944.6:c.352del
|