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
XP_016867228.1:p.Val789Leu	CA369653818 XM_017011739.1:c.2365G>T CA369653819 XM_017011739.1:c.2365G>C