Canonical Allele Identifier: PA2826578071
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 550556
ClinVar RCV Id: RCV000665334
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Glu3112del
CA246653051
NM_001278055.2:c.9336_9338del
CA387513677
NM_001278055.2:c.9334G>T