Canonical Allele Identifier: PA2826577830
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2200698
ClinVar RCV Id: RCV002644201

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Pro2788Leu
CA6910714
NM_001278055.2:c.8363C>T