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
ENSP00000498052.1:p.Trp148Arg
CA369683321
ENST00000650516.1:c.442T>C
CA369683332
ENST00000650516.1:c.442T>A