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
ENSP00000502766.1:p.Ser62Arg
CA413501331
ENST00000674549.1:c.184A>C
CA413501341
ENST00000674549.1:c.186C>G
CA413501343
ENST00000674549.1:c.186C>A