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_001269092.1:p.Lys374Asn
CA413185561
NM_001282163.2:c.1122G>C
CA413185562
NM_001282163.2:c.1122G>T