Allele Registry

Canonical Allele Identifier: PA915953498

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000019084

RCV000020113

RCV000291823

RCV000627758

RCV003317041

RCV004532391

ClinVar Variation:

17532

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly230Glu	CA258012 NM_000083.3:c.689G>A