Allele Registry

Canonical Allele Identifier: PA915953921

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000019085

RCV000020108

RCV000478940

RCV000638250

ClinVar Variation:

17533

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Pro932Leu	CA258014 NM_000083.3:c.2795C>T