Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: ERCC6 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333369.1:p.Asp1248Glu	CA376712479 NM_001346440.2:c.3744C>G CA376712482 NM_001346440.2:c.3744C>A