Canonical Allele Identifier: PA2580423690
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2166847
ClinVar RCV Id: RCV003080286

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_061764.2:p.Trp249Arg
CA369954229
NM_018941.4:c.745T>A
CA369954230
NM_018941.4:c.745T>C