Canonical Allele Identifier: PA2826578777
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 568311
ClinVar RCV Id: RCV000688629

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asp4081His
CA387507156
NM_001278055.2:c.12241G>C