Allele Registry

Canonical Allele Identifier: PA113258

Gene: GJB2 HGNC NCBI

ClinVar Allele:

32060

ClinVar RCV:

RCV000018548

ClinVar Variation:

17021

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Gly12Arg	CA127028 NM_004004.6:c.34G>C