Canonical Allele Identifier: PA916015275
Gene: CLCN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 800219
ClinVar RCV Id: RCV000983885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004357.3:p.Leu440Phe
CA2734173
NM_004366.6:c.1318C>T