Allele Registry

Canonical Allele Identifier: PA915953887

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000638245

RCV002272312

RCV002529875

RCV003488748

ClinVar Variation:

531751

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gln753Pro	CA4537603 NM_000083.3:c.2258A>C