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.Phe29Leu
CA413500833
ENST00000447581.2:c.85T>C
CA413500848
ENST00000447581.2:c.87C>A
CA413500852
ENST00000447581.2:c.87C>G