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)	Transcript change
ENSP00000372299.4:p.Gln124Ter	ENST00000382848.5:c.[363del;365A=;368C>A;... ENST00000382848.5:c.[363del;368C>A;371A>T... ENST00000382848.5:c.[363del;368C>A;371A>T... ENST00000382848.5:c.370C>T