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: GJB2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000372299.4:p.Glu209Asp
CA387460770
ENST00000382848.5:c.627A>T
CA387460771
ENST00000382848.5:c.627A>C