Allele Registry

Canonical Allele Identifier: PA341597

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000020170

RCV000789951

ClinVar Variation:

21080

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Ser49Pro	CA341595 NM_001097642.3:c.145T>C