Allele Registry

Canonical Allele Identifier: PA185219

Gene: GJB2 HGNC NCBI

ClinVar Allele:

175767

ClinVar RCV:

RCV000156624

ClinVar Variation:

179825

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ser17Cys	CA185218 NM_004004.6:c.50C>G