Allele Registry

Canonical Allele Identifier: PA2826707254

Gene: CLN3 HGNC NCBI

ClinVar RCV:

RCV000049656

RCV000696638

ClinVar Variation:

56244

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273039.1:p.Arg280His	CA263597 NM_001286110.2:c.839G>A