Canonical Allele Identifier: PA2826576351
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 597875
ClinVar RCV Id: RCV000734127 RCV002535367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg598Cys
CA6911722
NM_001278055.2:c.1792C>T