Canonical Allele Identifier: PA2499278441
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1003760
ClinVar RCV Id: RCV001300358 RCV001835432
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2166Cys
CA6911071
NM_014363.6:c.6496C>T