Allele Registry

Canonical Allele Identifier: PA915953578

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

264312

ClinVar RCV:

RCV000305463

RCV000560216

RCV001753743

RCV003319192

RCV004535246

ClinVar Variation:

280100

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly285Glu	CA4537163 NM_000083.3:c.854G>A