Canonical Allele Identifier: PA2741809835
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2688788
ClinVar RCV Id: RCV003490567

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Ala221Glu
CA369684904
NM_000083.3:c.662C>A