Allele Registry

Canonical Allele Identifier: PA915953557

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000517249

RCV002525026

ClinVar Variation:

447071

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Cys271Arg	CA369687538 NM_000083.3:c.811T>C