Allele Registry

Canonical Allele Identifier: PA658831332

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000667174

ClinVar Variation:

551991

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Phe106Leu	CA6904282 NM_004004.6:c.318C>A CA387461401 NM_004004.6:c.318C>G CA387461406 NM_004004.6:c.316T>C