Allele Registry

Canonical Allele Identifier: PA2825076690

Gene: GJB1 HGNC NCBI

ClinVar RCV:

RCV000512762

ClinVar Variation:

444867

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Ser17Cys	CA413499562 NM_000166.6:c.50C>G