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
ENSP00000365256.3:p.Phe406Leu
CA413185441
ENST00000376088.7:c.1216T>C
CA413185446
ENST00000376088.7:c.1218T>A
CA413185447
ENST00000376088.7:c.1218T>G