Canonical Allele Identifier: PA658664526
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 458258

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg745His
CA6911721
NM_014363.6:c.2234G>A