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
ENSP00000501757.1:p.Val37Leu
CA16043599
ENST00000675368.1:c.109G>T
CA413500957
ENST00000675368.1:c.109G>C