Allele Registry

Canonical Allele Identifier: PA645431199

Gene: GJB1 HGNC NCBI

ClinVar Allele:

422511

ClinVar RCV:

RCV000492924

RCV000704995

RCV000789185

ClinVar Variation:

429329

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Lys103Glu	CA413501861 NM_001097642.3:c.307A>G