Allele Registry

Canonical Allele Identifier: PA915953434

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

32587

ClinVar RCV:

RCV000019102

RCV003387727

ClinVar Variation:

17548

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Ser189Phe	CA258032 NM_000083.3:c.566C>T