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
NP_001091111.1:p.Ser277Arg
CA413504378
NM_001097642.3:c.829A>C
CA413504399
NM_001097642.3:c.831C>A
CA413504403
NM_001097642.3:c.831C>G