Canonical Allele Identifier: PA2826576524
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448199
ClinVar RCV Id: RCV000516574 RCV001081341 RCV001109615 RCV001848892 RCV001644611 RCV003905307
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg829Ser
CA6911590
NM_001278055.2:c.2485C>A