Canonical Allele Identifier: PA2580354573
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2038982
ClinVar RCV Id: RCV002895363

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2093His
CA6911105
NM_014363.6:c.6278G>A