Allele Registry

Canonical Allele Identifier: PA915953373

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

310053

ClinVar RCV:

RCV000263405

RCV000536073

RCV001571296

RCV004022040

ClinVar Variation:

359095

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Arg105His	CA4536913 NM_000083.3:c.314G>A