HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000426053.1:p.[Tyr123delinsIleSerAspCysPheValAsnValGluAlaThrPheSerMetIleAsnLeuLeuLeuProValLeuThrGluLeuLeu;Gln124_Ter125insLysGluLys] |
CA3505291
ENST00000503336.1:c.367del
|