Allele Registry

Canonical Allele Identifier: PA113443

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018564

RCV000211769

RCV000254760

RCV000410225

RCV000626853

RCV004532387

ClinVar Variation:

17036

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Val84Met	CA257683 NM_004004.6:c.250G>A