Canonical Allele Identifier: PA1139731882
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 964123
ClinVar RCV Id: RCV001238280 RCV001834064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Tyr3463His
CA387512326
NM_014363.6:c.10387T>C