Canonical Allele Identifier: PA2573090611
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343990
ClinVar RCV Id: RCV001847535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala1373Glu
CA387532418
NM_014363.6:c.4118C>A