Allele Registry

Canonical Allele Identifier: PA915953437

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000530513

RCV000711236

ClinVar Variation:

289004

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly190Arg	CA4537004 NM_000083.3:c.568G>A CA369684235 NM_000083.3:c.568G>C