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
NP_001121370.1:p.Asp461Glu
CA413185939
NM_001127898.4:c.1383C>A
CA413185941
NM_001127898.4:c.1383C>G