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
ENSP00000363141.1:p.Met150Ile
CA413502531
ENST00000374029.2:c.450G>A
CA413502532
ENST00000374029.2:c.450G>C
CA413502533
ENST00000374029.2:c.450G>T