Canonical Allele Identifier: PA2826578203
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 696178
ClinVar RCV Id: RCV000862368 RCV001109205
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr3286Ile
CA6910470
NM_001278055.2:c.9857C>T