Allele Registry

Canonical Allele Identifier: PA915953448

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000517112

RCV000545021

ClinVar Variation:

21046

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Leu198Val	CA341549 NM_000083.3:c.592C>G