Allele Registry

Canonical Allele Identifier: PA172237

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000037868

RCV000146025

RCV000211783

RCV000515258

RCV000724546

RCV001004386

RCV001257566

ClinVar Variation:

44763

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asn206Ser	CA172236 NM_004004.6:c.617A>G