Canonical Allele Identifier: PA645437490
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311531
ClinVar RCV Id: RCV000282675 RCV002520866 RCV000691162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr2212Ala
CA6911051
NM_014363.6:c.6634A>G