Allele Registry

Canonical Allele Identifier: PA2499236271

Gene: CLN3 HGNC NCBI

ClinVar RCV:

RCV001591922

RCV001866162

ClinVar Variation:

1213979

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035897.1:p.Ser423Leu	CA7980632 NM_001042432.2:c.1268C>T