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.Met194Leu
CA369684316
ENST00000343257.7:c.580A>C
CA369684322
ENST00000343257.7:c.580A>T