Allele Registry

Canonical Allele Identifier: PA098564

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000020170

RCV000789951

ClinVar Variation:

21080

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Ser49Pro	CA341595 NM_000166.6:c.145T>C