Allele Registry

Canonical Allele Identifier: PA915953569

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

441042

ClinVar RCV:

RCV000518465

RCV001071563

RCV001662525

ClinVar Variation:

447072

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly276Ser	CA4537128 NM_000083.3:c.826G>A