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
ENSP00000494142.2:p.Val13Leu
CA255251
ENST00000645009.2:c.37G>T
CA413499475
ENST00000645009.2:c.37G>C