Allele Registry

Canonical Allele Identifier: PA645385706

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000409580

RCV000411084

RCV000488996

RCV000506862

RCV000825565

RCV001257565

ClinVar Variation:

371709

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Glu147Lys	CA6904269 NM_004004.6:c.439G>A