Canonical Allele Identifier: PA2826576039
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 411689
ClinVar RCV Id: RCV000519338 RCV000466492 RCV001271972 RCV004022883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg198Trp
CA6911986
NM_001278055.2:c.592C>T