Canonical Allele Identifier: PA343837
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 40980
ClinVar RCV Id: RCV000033872

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121371.1:p.Asn410Lys
CA343836
NM_001127899.4:c.1230C>A
CA413185471
NM_001127899.4:c.1230C>G