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
ENSP00000407223.2:p.Glu146Asp	CA413502431 ENST00000447581.2:c.438G>T CA413502433 ENST00000447581.2:c.438G>C