Allele Registry

Canonical Allele Identifier: PA915953682

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000297363

RCV000481219

RCV001078695

ClinVar Variation:

359107

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Ala402Val	CA4537279 NM_000083.3:c.1205C>T