Allele Registry

Canonical Allele Identifier: PA274471

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000169613

RCV000609655

RCV000991850

RCV003224180

RCV004535149

ClinVar Variation:

189183

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ser199Phe	CA274470 NM_004004.6:c.596C>T