Allele Registry

Canonical Allele Identifier: PA915953751

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV002267654

ClinVar Variation:

1697271

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Pro480Thr	CA341537 NM_000083.3:c.1438C>A