Canonical Allele Identifier: PA2826578540
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 458252
ClinVar RCV Id: RCV000538311 RCV001835845 RCV002473047 RCV002527683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala3759Val
CA6910234
NM_001278055.2:c.11276C>T