Allele Registry

Canonical Allele Identifier: PA263596

Gene: CLN3 HGNC NCBI

ClinVar Allele:

70882

ClinVar RCV:

RCV000049655

RCV000588369

ClinVar Variation:

56243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035897.1:p.Arg334Cys	CA263593 NM_001042432.2:c.1000C>T