Allele Registry

Canonical Allele Identifier: PA2580282787

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV002634742

RCV004526452

ClinVar Variation:

1924123

3233602

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ser19Ile	CA6904327 NM_004004.6:c.56G>T CA2825002101 NM_004004.6:c.56_57delinsTT