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
ENSP00000365276.3:p.Lys348Asn
CA413185521
ENST00000376108.7:c.1044G>C
CA413185522
ENST00000376108.7:c.1044G>T