Allele Registry

Canonical Allele Identifier: PA357245

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000210857

RCV000411925

RCV001853379

RCV002229191

ClinVar Variation:

225222

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Gly200Arg	CA357244 NM_004004.6:c.598G>A CA387460827 NM_004004.6:c.598G>C