Allele Registry

Canonical Allele Identifier: PA658699353

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000588875

ClinVar Variation:

496215

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Gly59Arg	CA387461703 NM_004004.6:c.175G>C