Canonical Allele Identifier: PA658664501
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448194
ClinVar RCV Id: RCV000518256 RCV001271971 RCV001409443
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr507Ala
CA6911906
NM_014363.6:c.1519A>G