Canonical Allele Identifier: PA2580354502
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2156363
ClinVar RCV Id: RCV003084119
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr1862Arg
CA246659003
NM_014363.6:c.5585C>G