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
ENSP00000494596.1:p.Phe69Leu
CA413501457
ENST00000646835.1:c.205T>C
CA413501470
ENST00000646835.1:c.207C>A
CA413501472
ENST00000646835.1:c.207C>G