Allele Registry

Canonical Allele Identifier: PA261650

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037855

RCV000211780

RCV000490112

RCV002490513

ClinVar Variation:

44752

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Lys15Thr	CA261649 NM_004004.6:c.44A>C