Allele Registry

Canonical Allele Identifier: PA915971637

Gene: GJB1 HGNC NCBI

ClinVar Variation Id: 637244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Phe69Leu	CA413501457 NM_001097642.3:c.205T>C CA413501470 NM_001097642.3:c.207C>A CA413501472 NM_001097642.3:c.207C>G