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
ENSP00000363141.1:p.His116Gln
CA413501970
ENST00000374029.2:c.348C>A
CA413501971
ENST00000374029.2:c.348C>G