Allele Registry

Canonical Allele Identifier: PA915972103

Gene: GJB1 HGNC NCBI

ClinVar Variation Id: 637639

ClinVar RCV Id: RCV000789902

ClinVar Variation Id: 2429345

ClinVar RCV Id: RCV003126286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Phe193Leu	CA413503215 NM_001097642.3:c.577T>C CA413503220 NM_001097642.3:c.579C>A CA413503221 NM_001097642.3:c.579C>G