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.Met194Ile
CA369684329
ENST00000343257.7:c.582G>A
CA369684332
ENST00000343257.7:c.582G>T
CA369684333
ENST00000343257.7:c.582G>C