Allele Registry

Canonical Allele Identifier: PA2826706251

Gene: CLN3 HGNC NCBI

ClinVar Allele:

70882

ClinVar RCV:

RCV000049655

RCV000588369

ClinVar Variation:

56243

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273038.1:p.Arg256Cys	CA263593 NM_001286109.2:c.766C>T