Canonical Allele Identifier: PA263596
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56243
ClinVar RCV Id: RCV000049655 RCV000588369
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035897.1:p.Arg334Cys
CA263593
NM_001042432.2:c.1000C>T