Allele Registry

Canonical Allele Identifier: PA263710

Gene: CLN3 HGNC NCBI

ClinVar RCV:

RCV000049694

RCV000805513

RCV001853045

ClinVar Variation:

56282

650372

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035897.1:p.Gly189Arg	CA263707 NM_001042432.2:c.565G>C CA395345438 NM_001042432.2:c.565G>A