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
NP_000075.1:p.Glu383Asp
CA413185824
NM_000084.5:c.1149G>C
CA413185826
NM_000084.5:c.1149G>T