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
ENSP00000501813.1:p.Thr18Ser	CA413500633 ENST00000675209.1:c.52A>T CA413500639 ENST00000675209.1:c.53C>G