Canonical Allele Identifier: PA263710
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56282
ClinVar RCV Id: RCV000049694 RCV001853045
ClinVar Variation Id: 650372
ClinVar RCV Id: RCV000805513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035897.1:p.Gly189Arg
CA263707
NM_001042432.2:c.565G>C
CA395345438
NM_001042432.2:c.565G>A