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: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000496632.1:p.Val308Leu
CA413185257
ENST00000642885.1:c.922G>C
CA413185258
ENST00000642885.1:c.922G>T