Canonical Allele Identifier: PA208865
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 193706
ClinVar RCV Id: RCV000194599 RCV000515329 RCV001082339 RCV000710206 RCV001847803 RCV003937553
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Met1359Thr
CA208864
NM_014363.6:c.4076T>C