Allele Registry

Canonical Allele Identifier: PA915953911

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000184022

RCV001053528

RCV002472962

ClinVar Variation:

202176

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Val860Ile	CA275467 NM_000083.3:c.2578G>A