Canonical Allele Identifier: PA2826704094
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56282
ClinVar Variation Id: 650372
ClinVar RCV Id: RCV000805513

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001273033.1:p.Gly165Arg
CA263707
NM_001286104.2:c.493G>C
CA395345438
NM_001286104.2:c.493G>A