Allele Registry

Canonical Allele Identifier: PA915953287

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

523082

ClinVar RCV:

RCV000638251

RCV000714895

RCV000714896

RCV002473080

ClinVar Variation:

531755

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Arg47Trp	CA4536828 NM_000083.3:c.139C>T