Canonical Allele Identifier: PA2826576085
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1942081
ClinVar RCV Id: RCV002643467

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Gly255Arg
CA6911954
NM_001278055.2:c.763G>C
CA387549811
NM_001278055.2:c.763G>A