Allele Registry

Canonical Allele Identifier: PA915953620

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

33904

ClinVar RCV:

RCV000224894

RCV000638231

RCV001196602

RCV003883120

ClinVar Variation:

21052

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Ala313Thr	CA341561 NM_000083.3:c.937G>A