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
XP_011529209.1:p.Met93Ile
CA413501750
XM_011530907.2:c.279G>A
CA413501752
XM_011530907.2:c.279G>C
CA413501753
XM_011530907.2:c.279G>T