This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
XP_011533351.1:p.Gln124Ter
XM_011535049.2:c.[363del;365A=;368C>A;371...

XM_011535049.2:c.[363del;368C>A;371A>T]

XM_011535049.2:c.[363del;368C>A;371A>T;37...

XM_011535049.2:c.370C>T