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: CLCN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000339867.2:p.Cys278Ser
CA369687580
ENST00000343257.7:c.832T>A
CA369687583
ENST00000343257.7:c.833G>C