Canonical Allele Identifier: PA2580354618
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2076854
ClinVar RCV Id: RCV002985226

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2383His
CA6910965
NM_014363.6:c.7148G>A