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
ENSP00000502766.1:p.Phe153Leu
CA413502560
ENST00000674549.1:c.457T>C
CA413502569
ENST00000674549.1:c.459T>A
CA413502570
ENST00000674549.1:c.459T>G