Allele Registry

Canonical Allele Identifier: PA915953380

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000019100

RCV000020109

RCV001049292

ClinVar Variation:

17546

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Met128Val	CA258030 NM_000083.3:c.382A>G