Canonical Allele Identifier: PA2826578077
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1326491
ClinVar RCV Id: RCV001786671 RCV002541247 RCV002506825
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr3117Arg
CA6910566
NM_001278055.2:c.9350C>G