Canonical Allele Identifier: PA2741809840
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925420
ClinVar RCV Id: RCV003781074

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Tyr261Cys
CA168258795
NM_000083.3:c.782A>G