Canonical Allele Identifier: PA2826578161
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448184
ClinVar RCV Id: RCV000517432 RCV000676353 RCV001834668 RCV002527516
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr3226Ile
CA6910502
NM_001278055.2:c.9677C>T