HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000480868.1:p.[His175_Val179delinsIleValTrpTrpCys;Tyr181_Met204delinsMetSerArgLeuArgLeuAlaLeuThrValProProSerThrThrThrThrCysValThrValProAlaTrp] |
CA497925302
ENST00000610538.4:c.523del
|