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
XP_011514083.1:p.Ser982Arg
CA369654211
XM_011515781.1:c.2944A>C
CA369654221
XM_011515781.1:c.2946C>A
CA369654223
XM_011515781.1:c.2946C>G