Allele Registry

Canonical Allele Identifier: PA915953547

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000518447

RCV000815779

RCV003323583

ClinVar Variation:

447070

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly255Trp	CA369686764 NM_000083.3:c.763G>T