Allele Registry

Canonical Allele Identifier: PA273834

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000278504

RCV000336897

RCV000407574

RCV000678880

RCV000757332

RCV001175238

RCV001288924

ClinVar Variation:

188488

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Glu119Lys	CA273833 NM_004004.6:c.355G>A