Allele Registry

Canonical Allele Identifier: PA113178

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018558

ClinVar Variation:

17030

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Asn54Lys	CA127032 NM_004004.6:c.162C>A CA387461746 NM_004004.6:c.162C>G