Allele Registry

Canonical Allele Identifier: PA113104

Gene: GJB2 HGNC NCBI

ClinVar Allele:

32056

ClinVar RCV:

RCV000018542

RCV000018543

RCV000484997

RCV002466408

ClinVar Variation:

17017

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Arg143Gln	CA257677 NM_004004.6:c.428G>A