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.Thr166Ser
CA4536969
ENST00000650516.1:c.497C>G
CA369683678
ENST00000650516.1:c.496A>T