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
ENSP00000363134.3:p.Gln80His
CA413501625
ENST00000374022.3:c.240G>C
CA413501626
ENST00000374022.3:c.240G>T