Canonical Allele Identifier: PA094503
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 502677
ClinVar RCV Id: RCV000593745 RCV000671806 RCV002232237 RCV002532677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Glu4343Lys
CA6910035
NM_014363.6:c.13027G>A