Canonical Allele Identifier: PA2826578773
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2618118
ClinVar RCV Id: RCV003374507
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Tyr4078His
CA387507201
NM_001278055.2:c.12232T>C