Canonical Allele Identifier: PA2826577918
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448228
ClinVar RCV Id: RCV000516989 RCV001829476 RCV002525076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu2911Arg
CA6910654
NM_001278055.2:c.8732T>G