Canonical Allele Identifier: PA094589
Gene: SACS HGNC NCBI
ClinVar RCV:
RCV000005855
ClinVar Variation:
5520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe1054Ser
CA253518
NM_014363.6:c.3161T>C