HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000478499.1:p.[Ser83_Val86delinsArgTrpTrpCys;Tyr88_Met105delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThr;Asn107_Gly113delinsValThrValProAlaTrpAla] |
CA2573154670
ENST00000510385.5:c.249del
|