Allele Registry

Canonical Allele Identifier: PA1139716304

Gene: GJB2 HGNC NCBI

ClinVar Allele:

870842

ClinVar RCV:

RCV001109875

RCV001109876

RCV001109877

RCV001856469

RCV003331045

ClinVar Variation:

881103

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asp66Asn	CA387461646 NM_004004.6:c.196G>A