Canonical Allele Identifier: PA916008729
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448202

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asn989Lys
CA246662269
NM_001278055.2:c.2967T>G
CA387535426
NM_001278055.2:c.2967T>A