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
ENSP00000498052.2:p.Val947Leu	CA369653909 ENST00000650516.2:c.2839G>T CA369653910 ENST00000650516.2:c.2839G>C