Canonical Allele Identifier: PA658664614
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448214
ClinVar RCV Id: RCV000516945 RCV001276938 RCV002527521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ser2089Leu
CA6911108
NM_014363.6:c.6266C>T