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.Phe392Leu
CA413185353
ENST00000376088.7:c.1174T>C
CA413185357
ENST00000376088.7:c.1176C>A
CA413185358
ENST00000376088.7:c.1176C>G