Canonical Allele Identifier: PA2826577449
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 285241

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asn2233Lys
CA6910967
NM_001278055.2:c.6699T>A
CA387519950
NM_001278055.2:c.6699T>G