Canonical Allele Identifier: PA2826706353
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56248
ClinVar RCV Id: RCV000049660
ClinVar Variation Id: 660322
ClinVar RCV Id: RCV000817490
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001273038.1:p.Gln274His
CA263608
NM_001286109.2:c.822G>C
CA395343889
NM_001286109.2:c.822G>T