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: GJB1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000502556.1:p.Asp66Glu	CA413501394 ENST00000674844.1:c.198C>A CA413501397 ENST00000674844.1:c.198C>G