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
NP_001091111.1:p.Val210Leu	CA413503351 NM_001097642.3:c.628G>T CA413503354 NM_001097642.3:c.628G>C