Canonical Allele Identifier: PA2580103423
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807048
ClinVar RCV Id: RCV002474477

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ile987Leu
CA369654354
NM_000083.3:c.2959A>C