Allele Registry

Canonical Allele Identifier: PA313735

Gene: CLN3 HGNC NCBI

ClinVar RCV:

RCV000505765

RCV000549781

RCV001785496

RCV002336493

ClinVar Variation:

205097

HGVS (amino-acid)	Matching Registered Transcripts
NP_000077.1:p.Glu17Lys	CA313732 NM_000086.2:c.49G>A