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.Trp148Cys	CA369683344 NM_000083.2:c.444G>C CA369683348 NM_000083.2:c.444G>T