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: CLCN5 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269092.1:p.Met399Ile	CA413185765 NM_001282163.2:c.1197G>A CA413185766 NM_001282163.2:c.1197G>C CA413185768 NM_001282163.2:c.1197G>T