Canonical Allele Identifier: PA2580354764
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1906451
ClinVar RCV Id: RCV002586925

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg3048Cys
CA6910661
NM_014363.6:c.9142C>T