Canonical Allele Identifier: PA891865380
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 590775
ClinVar RCV Id: RCV000721922

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu42del
CA658795176
NM_004004.6:c.125_127del