Canonical Allele Identifier: PA916008733
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 212112
ClinVar RCV Id: RCV000193535 RCV000338267 RCV000470007 RCV001083422 RCV001847871 RCV003907705 RCV004020340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Gln996Lys
CA207090
NM_001278055.2:c.2986C>A