Allele Registry

Canonical Allele Identifier: PA113298

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018562

RCV001851915

ClinVar Variation:

17034

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Gly59Ser	CA127035 NM_004004.6:c.175G>A