Canonical Allele Identifier: PA2826577383
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 650611
ClinVar RCV Id: RCV000805789

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asp2144His
CA387520563
NM_001278055.2:c.6430G>C