Allele Registry

Canonical Allele Identifier: PA658831344

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000665713

RCV001855444

ClinVar Variation:

550847

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asp179His	CA387460951 NM_004004.6:c.535G>C