Allele Registry

Canonical Allele Identifier: PA915953876

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000279484

RCV000518175

RCV000638263

RCV001712348

ClinVar Variation:

359121

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Pro744Thr	CA4537594 NM_000083.3:c.2230C>A