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.Glu950Asp	CA369653951 ENST00000650516.2:c.2850G>C CA369653952 ENST00000650516.2:c.2850G>T