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) Matching Registered Transcripts
ENSP00000372295.1:p.Cys174Ser
CA387460977
ENST00000382844.2:c.521G>C
CA387460982
ENST00000382844.2:c.520T>A