Canonical Allele Identifier: PA2826578871
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448191
ClinVar RCV Id: RCV000516513 RCV001412104 RCV001783015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ile4200Val
CA6910031
NM_001278055.2:c.12598A>G