HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000442493.2:p.[His594Ile;Tyr596_His612delinsThrLysGluValHisGluTrpPheLeuMetGluSerThrGlnAsnTyrThr;Met614_Thr617delinsCysSerSer;Gly619Met;Tyr621_Pro623delinsSerMetAsn] |
CA2575516231
ENST00000542564.6:c.1779del
|