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: GJB2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011533351.1:p.Thr18Ser	CA387462150 XM_011535049.2:c.53C>G CA387462153 XM_011535049.2:c.52A>T