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: GJB1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011529209.1:p.Glu118Asp
CA413501989
XM_011530907.2:c.354G>C
CA413501991
XM_011530907.2:c.354G>T