Canonical Allele Identifier: PA2826576122
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 282385
ClinVar RCV Id: RCV000603816 RCV000676372 RCV000516147 RCV001844110 RCV003930065 RCV001082461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr311Ile
CA6911923
NM_001278055.2:c.932C>T