Allele Registry

Canonical Allele Identifier: PA915953731

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV002525941

RCV003332183

ClinVar Variation:

423657

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Phe463Cys	CA16618365 NM_000083.3:c.1388T>G