Allele Registry

Canonical Allele Identifier: PA915953794

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000020102

RCV000638249

RCV000711222

RCV002267607

ClinVar Variation:

21040

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Ala531Val	CA341539 NM_000083.3:c.1592C>T