Canonical Allele Identifier: PA645437581
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 426709
ClinVar RCV Id: RCV000489599

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Gly2757Arg
CA387517003
NM_014363.6:c.8269G>C
CA387517004
NM_014363.6:c.8269G>A