HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000419103.2:p.Leu1729_Arg1758delinsArgMetSerMetIleLeuLysSerGluGluMetTrpSerMetGluGluThrThrLysValGlnSerGluGlnGluAsnProArgThrGlu |
CA003329
ENST00000494123.6:c.5186del
|