Allele Registry

Canonical Allele Identifier: PA915953650

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000516411

RCV000527543

RCV002227480

ClinVar Variation:

447043

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly355Arg	CA4537214 NM_000083.3:c.1063G>A CA369641941 NM_000083.3:c.1063G>C