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.Val178Leu	CA387460954 XM_011535049.2:c.532G>T CA387460955 XM_011535049.2:c.532G>C