Canonical Allele Identifier: PA2741809938
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2580986
ClinVar RCV Id: RCV003330221

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Asp592Asn
CA369646749
NM_000083.3:c.1774G>A