Canonical Allele Identifier: PA645437279
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 290868
ClinVar RCV Id: RCV000333351 RCV001089050 RCV001782779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro1427Thr
CA6911409
NM_014363.6:c.4279C>A