Allele Registry

Canonical Allele Identifier: PA915953745

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV004689552

ClinVar Variation:

3336600

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Ser471Phe	CA341535 NM_000083.3:c.1412C>T