Allele Registry

Canonical Allele Identifier: PA2829482052

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037866

RCV000211782

RCV000678892

RCV000727541

RCV002271384

ClinVar Variation:

44761

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.[Val198_Ile201delinsGln;Ile203_Cys218del;Gly220Ter]	CA261653 NM_004004.6:c.592_600delinsCAGTGTTCATGACATTC