Canonical Allele Identifier: PA2826577312
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448216
ClinVar RCV Id: RCV000518764

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu2042Val
CA6911062
NM_001278055.2:c.6124T>G