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
ENSP00000502556.1:p.Phe145Leu
CA413502399
ENST00000674844.1:c.433T>C
CA413502410
ENST00000674844.1:c.435T>A
CA413502413
ENST00000674844.1:c.435T>G