Allele Registry

Canonical Allele Identifier: PA2825662431

Gene: CLCN5 HGNC NCBI

ClinVar Variation Id: 1686572

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121370.1:p.Phe343Leu	CA413185034 NM_001127898.4:c.1027T>C CA413185039 NM_001127898.4:c.1029T>A CA413185040 NM_001127898.4:c.1029T>G