Canonical Allele Identifier: PA2826601498
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 40980
ClinVar RCV Id: RCV000033872

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001269092.1:p.Asn360Lys
CA343836
NM_001282163.2:c.1080C>A
CA413185471
NM_001282163.2:c.1080C>G