Canonical Allele Identifier: PA2826577300
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1003760
ClinVar RCV Id: RCV001300358 RCV001835432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg2019Cys
CA6911071
NM_001278055.2:c.6055C>T