HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000481179.1:p.[Thr79Leu;Arg81_Val86delinsAspIleValTrpTrpCys;Tyr88_Ser108delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrVal] |
CA497925310
ENST00000504937.5:c.235del
|