Allele Registry

Canonical Allele Identifier: PA915953580

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000814585

ClinVar Variation:

21049

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Val286Ala	CA341555 NM_000083.3:c.857T>C