Canonical Allele Identifier: PA2580102998
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1807088
ClinVar RCV Id: RCV002475045

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ala221Thr
CA369684897
NM_000083.3:c.661G>A