Allele Registry

Canonical Allele Identifier: PA2826705266

Gene: CLN3 HGNC NCBI

ClinVar RCV:

RCV000049660

RCV000817490

ClinVar Variation:

56248

660322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273034.1:p.Gln252His	CA263608 NM_001286105.2:c.756G>C CA395343889 NM_001286105.2:c.756G>T