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
ENSP00000407223.2:p.Phe68Leu
CA413501433
ENST00000447581.2:c.202T>C
CA413501450
ENST00000447581.2:c.204C>A
CA413501452
ENST00000447581.2:c.204C>G