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.Asn430Lys	CA369643918 NM_000083.2:c.1290C>A CA369643921 NM_000083.2:c.1290C>G