Allele Registry

Canonical Allele Identifier: PA113238

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018544

RCV001659701

ClinVar Variation:

17018

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Cys202Phe	CA257678 NM_004004.6:c.605G>T