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
ENSP00000495960.1:p.Phe180Leu
CA413503052
ENST00000647424.1:c.538T>C
CA413503063
ENST00000647424.1:c.540C>A
CA413503066
ENST00000647424.1:c.540C>G