Canonical Allele Identifier: PA2499236268
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058147
ClinVar RCV Id: RCV001367244

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035897.1:p.Ala349Val
CA395343938
NM_001042432.2:c.1046C>T