Canonical Allele Identifier: PA2741809937
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2948897
ClinVar RCV Id: RCV003801623

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000074.3:p.Val584Asp
CA369646700
NM_000083.3:c.1751T>A