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
ENSP00000496353.1:p.Thr187Ser
CA413185640
ENST00000642383.1:c.559A>T
CA413185643
ENST00000642383.1:c.560C>G