Allele Registry

Canonical Allele Identifier: PA915953273

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000478896

RCV001202209

ClinVar Variation:

422402

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gln13Lys	CA4536805 NM_000083.3:c.37C>A