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.Gln160His
CA4536967
ENST00000343257.7:c.480G>C
CA369683567
ENST00000343257.7:c.480G>T