Allele Registry

Canonical Allele Identifier: PA915953640

Gene: CLCN1 HGNC NCBI

ClinVar Allele:

513969

ClinVar RCV:

RCV000626580

RCV003767841

ClinVar Variation:

523317

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Phe343Leu	CA369641865 NM_000083.3:c.1027T>C CA369641870 NM_000083.3:c.1029T>A CA369641871 NM_000083.3:c.1029T>G