Allele Registry

Canonical Allele Identifier: PA915953435

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000191069

RCV000489144

RCV000530150

RCV000626583

RCV002288796

ClinVar Variation:

209139

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Gly190Ser	CA276131 NM_000083.3:c.568_569delinsTC