Canonical Allele Identifier: PA2826578799
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2197421
ClinVar RCV Id: RCV002637682

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ser4113Pro
CA6910087
NM_001278055.2:c.12337T>C