Allele Registry

Canonical Allele Identifier: PA172227

Gene: GJB2 HGNC NCBI

ClinVar RCV:

RCV000018530

RCV000146018

RCV000211776

RCV000520132

RCV000678881

RCV001257563

RCV002496401

ClinVar Variation:

17006

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Glu120del	CA172226 NM_004004.6:c.358_360del