Allele Registry

Canonical Allele Identifier: PA916014713

Gene: CLN3 HGNC NCBI

ClinVar RCV:

RCV000187031

RCV000689160

RCV001785503

ClinVar Variation:

205110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273038.1:p.Ala80Thr	CA313798 NM_001286109.2:c.238G>A