HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000509539.1:p.[Arg486Gly;Thr488_Phe495delinsProSerArgGlyLeuSerAspSerGln;Ser498_Pro514delinsAlaGlyLeuHisSerAlaValThrAlaThrMetSerSerGlyAlaHis] |
CA2580615532
ENST00000693680.1:c.1456del
|