Canonical Allele Identifier: PA913193242
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 619025

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Trp3701Arg
CA6910340
NM_014363.6:c.11101T>C
CA387510733
NM_014363.6:c.11101T>A