Allele Registry

Canonical Allele Identifier: PA645385764

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000493772

RCV001004776

ClinVar Variation:

429984

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Lys188Arg	CA387460893 NM_004004.6:c.563A>G