Canonical Allele Identifier: PA1139730641
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 930257
ClinVar RCV Id: RCV001195790 RCV003482337 RCV002559244 RCV002560209
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg1575Gln
CA6911352
NM_014363.6:c.4724G>A