Canonical Allele Identifier: PA2741944834
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2884817
ClinVar RCV Id: RCV003750466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr587Arg
CA6911855
NM_014363.6:c.1760C>G