Allele Registry

Canonical Allele Identifier: PA097795

Gene: GJB1 HGNC NCBI

ClinVar Allele:

470998

ClinVar RCV:

RCV000529489

RCV000789250

ClinVar Variation:

477598

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Gly159Ser	CA413502674 NM_000166.6:c.475G>A