Allele Registry

Canonical Allele Identifier: PA915953784

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000019087

RCV000692794

RCV001781281

RCV004532392

ClinVar Variation:

17535

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Arg496Ser	CA258016 NM_000083.3:c.1488G>T CA369645579 NM_000083.3:c.1488G>C