Canonical Allele Identifier: PA2580354361
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2071683
ClinVar RCV Id: RCV002975773
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile983Val
CA387537197
NM_014363.6:c.2947A>G