Allele Registry

Canonical Allele Identifier: PA2573233188

Gene: GJB2 HGNC NCBI

ClinVar Allele:

1352296

ClinVar RCV:

RCV002013660

ClinVar Variation:

1507837

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Gly59Val	CA387461699 NM_004004.6:c.176G>T