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Canonical Allele Identifier: Get Identifier
Gene: ERCC2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000375808.3:p.[Val586del;Arg588_Arg591delinsSerGlyHisGln;Lys593_Thr594delinsGln;Tyr596del;Met599_Lys604delinsArgProHisGlyLeuCys;Phe606Gln;Arg608_Arg612delinsValCysProTrpGlyGlnAla;Lys614_Pro616delinsGluAlaAla]
CA882715393
ENST00000391944.7:c.1757_1758del