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.[Cys462_Asp466delinsTrpPro;Ser468_Lys469delinsGly;Cys471_Glu484del;Pro486_Pro489delinsGln;Gly491_Val492delinsLeu]
CA2580617050
NM_001127899.4:c.1386_1387del