Canonical Allele Identifier: PA2580354487
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1972164
ClinVar RCV Id: RCV002745977

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp1776Glu
CA387525910
NM_014363.6:c.5328T>A
CA387525911
NM_014363.6:c.5328T>G