Allele Registry

Canonical Allele Identifier: PA915953583

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

32580

ClinVar RCV:

RCV000019093

RCV001041229

RCV001781282

RCV002468557

ClinVar Variation:

17541

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Glu291Lys	CA258022 NM_000083.3:c.871G>A