Allele Registry

Canonical Allele Identifier: PA1139689947

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV001253400

ClinVar Variation:

976182

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Pro480Ser	CA369645355 NM_000083.3:c.1438C>T