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
ENSP00000495960.1:p.Thr191Ser
CA413503205
ENST00000647424.1:c.571A>T
CA413503207
ENST00000647424.1:c.572C>G