Canonical Allele Identifier: PA2580354743
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2199915
ClinVar RCV Id: RCV002640694

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Val2943Ala
CA6910709
NM_014363.6:c.8828T>C