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.Trp44Cys
CA10584635
ENST00000647424.1:c.132G>C
CA413501055
ENST00000647424.1:c.132G>T