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
ENSP00000354900.6:p.Glu186Asp
CA413503162
ENST00000361726.7:c.558G>C
CA413503164
ENST00000361726.7:c.558G>T