Allele Registry

Canonical Allele Identifier: PA915971591

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000789253

ClinVar Variation:

637190

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Thr55Arg	CA413501219 NM_001097642.3:c.164C>G