Canonical Allele Identifier: PA098080
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_000075.1:p.Leu278Phe
CA343849
NM_000084.5:c.834G>C
CA413185072
NM_000084.5:c.834G>T