Canonical Allele Identifier: PA913193011
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 597875

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg745Cys
CA6911722
NM_014363.6:c.2233C>T