Allele Registry

Canonical Allele Identifier: PA645385555

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000280037

RCV000340839

RCV000671813

ClinVar Variation:

311372

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Leu81Val	CA6904298 NM_004004.6:c.241C>G