Canonical Allele Identifier: PA2826578519
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 242492
ClinVar RCV Id: RCV001843500 RCV001848018 RCV002305471
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg3728His
CA351289
NM_001278055.2:c.11183G>A