Allele Registry

Canonical Allele Identifier: PA915953802

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV000437007

ClinVar Variation:

390794

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.His555Tyr	CA4537446 NM_000083.3:c.1663C>T