Allele Registry

Canonical Allele Identifier: PA2499227906

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV001312154

RCV003770636

RCV003883175

ClinVar Variation:

1013567

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Thr550Arg	CA369646480 NM_000083.3:c.1649C>G