Allele Registry

Canonical Allele Identifier: PA1139689945

Gene: CLCN1 HGNC NCBI

ClinVar RCV:

RCV001212337

ClinVar Variation:

942360

HGVS (amino-acid)	Matching Registered Transcripts
NP_000074.3:p.Pro480His	CA369645358 NM_000083.3:c.1439C>A