Canonical Allele Identifier: PA645437229
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 282385
ClinVar RCV Id: RCV000603816 RCV000676372 RCV000516147 RCV001844110 RCV003930065 RCV001082461
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr458Ile
CA6911923
NM_014363.6:c.1373C>T