Canonical Allele Identifier: PA645437582
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 240902
ClinVar RCV Id: RCV000341299 RCV000676358 RCV001847977 RCV001083821 RCV002222460 RCV003929987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Phe2780Cys
CA6910780
NM_014363.6:c.8339T>G