Allele Registry

Canonical Allele Identifier: PA915953585

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000517685

RCV001814177

RCV001851431

RCV002227481

ClinVar Variation:

447073

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Val299Leu	CA168212450 NM_000083.3:c.895G>C