Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269092.1:p.Asn394Lys	CA413185696 NM_001282163.2:c.1182T>A CA413185698 NM_001282163.2:c.1182T>G