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_001121370.1:p.[Leu345_Ala355delinsProGlnAsnIleValAlaPheIleLeuCysCys;Val357_Phe360delinsGlyGlySerIleHisSer;Arg363delinsHisGln;Asn366_Val374delinsTrpGluGlnProProGly]
CA645611539
NM_001127898.4:c.1033dup