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_001121371.1:p.Phe352Leu
CA413185091
NM_001127899.4:c.1054T>C
CA413185096
NM_001127899.4:c.1056C>A
CA413185097
NM_001127899.4:c.1056C>G