Canonical Allele Identifier: PA658831557
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 552380
ClinVar RCV Id: RCV000667624

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr1880Ile
CA387525211
NM_014363.6:c.5639C>T