Canonical Allele Identifier: PA2825662434
Gene: CLCN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 40986
ClinVar RCV Id: RCV000033878
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121370.1:p.Leu348Phe
CA343849
NM_001127898.4:c.1044G>C
CA413185072
NM_001127898.4:c.1044G>T