Allele Registry

Canonical Allele Identifier: PA263612

Gene: CLN3 HGNC NCBI

ClinVar RCV:

RCV000049660

RCV000817490

ClinVar Variation:

56248

660322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035897.1:p.Gln352His	CA263608 NM_001042432.2:c.1056G>C CA395343889 NM_001042432.2:c.1056G>T