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: CLCN7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278.1:p.Val748Leu
CA394185463
NM_001287.6:c.2242G>T
CA394185464
NM_001287.6:c.2242G>C