Canonical Allele Identifier: PA2826576447
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448198
ClinVar RCV Id: RCV000820462 RCV001111916 RCV000518481 RCV002525072 RCV001848891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ile721Val
CA6911659
NM_001278055.2:c.2161A>G