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Canonical Allele Identifier: Get Identifier
Gene: ERCC6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001263987.1:p.[Val231_Glu238delinsGluPheCysProGlyAspCys;Ile240Gly;Thr242_Thr246delinsAlaHisProHisTrp;Phe248_Gly249delinsAspAsp;Gln251_Ile252delinsPheTrpTyr;Gln254_Gln256delinsAspProSer;Lys258delinsThrGlyGlu;Lys259_Pro260insAla]
CA2540086241
NM_001277058.2:c.689_690insAGAGTTC