Canonical Allele Identifier: PA658664630
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 458272
ClinVar RCV Id: RCV000538701 RCV000765122 RCV002528313 RCV003482278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2214Cys
CA6911049
NM_014363.6:c.6640C>T