Allele Registry

Canonical Allele Identifier: PA915953788

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000019096

RCV001382414

ClinVar Variation:

17543

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly499Arg	CA258026 NM_000083.3:c.1495G>A CA369645606 NM_000083.3:c.1495G>C