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
ENSP00000498052.2:p.Arg496Ser
CA258016
ENST00000650516.2:c.1488G>T
CA369645579
ENST00000650516.2:c.1488G>C