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.Glu146Asp
CA413502431
ENST00000674549.1:c.438G>T
CA413502433
ENST00000674549.1:c.438G>C