Canonical Allele Identifier: PA658664598
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448207
ClinVar RCV Id: RCV000516475 RCV000863881 RCV001109527 RCV003900079
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Glu1807Lys
CA6911250
NM_014363.6:c.5419G>A