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: CLCN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.2:p.Asp579Glu	CA369646666 NM_000083.2:c.1737C>A CA369646667 NM_000083.2:c.1737C>G