Canonical Allele Identifier: PA2580354605
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2290044
ClinVar RCV Id: RCV002854096

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Val2293Leu
CA387520551
NM_014363.6:c.6877G>C