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.His16Gln	CA387462169 XM_011535049.2:c.48C>G CA387462170 XM_011535049.2:c.48C>A