HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000480868.1:p.[Thr172Leu;Arg174_Val179delinsAspIleValTrpTrpCys;Tyr181_Ser201delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrVal] |
CA497925310
ENST00000610538.4:c.514del
|