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: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000365256.3:p.Trp349Cys
CA413185078
ENST00000376088.7:c.1047G>C
CA413185079
ENST00000376088.7:c.1047G>T