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
ENSP00000304257.2:p.Asp396Glu
CA413186008
ENST00000307367.2:c.1188C>A
CA413186010
ENST00000307367.2:c.1188C>G