Canonical Allele Identifier: PA2826575979
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 504884
ClinVar RCV Id: RCV000612398 RCV000824757 RCV001380372 RCV001591363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg125Cys
CA246678438
NM_001278055.2:c.373C>T