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
ENSP00000354900.6:p.Glu275Asp
CA413504341
ENST00000361726.7:c.825A>C
CA413504343
ENST00000361726.7:c.825A>T