Canonical Allele Identifier: PA2826577450
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2076854
ClinVar RCV Id: RCV002985226

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg2236His
CA6910965
NM_001278055.2:c.6707G>A