Allele Registry

Canonical Allele Identifier: PA915953630

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000517879

RCV000638252

ClinVar Variation:

447078

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Val327Ile	CA4537187 NM_000083.3:c.979G>A