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
ENSP00000502766.1:p.His16Gln	CA413499547 ENST00000674549.1:c.48T>G CA413499550 ENST00000674549.1:c.48T>A