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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000365256.3:p.Asp472Glu
CA413186093
ENST00000376088.7:c.1416T>A
CA413186095
ENST00000376088.7:c.1416T>G