Canonical Allele Identifier: PA2826577251
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448214
ClinVar RCV Id: RCV000516945 RCV001276938 RCV002527521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ser1942Leu
CA6911108
NM_001278055.2:c.5825C>T