Canonical Allele Identifier: PA2826577503
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2085366
ClinVar RCV Id: RCV003005027
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu2288Pro
CA387519593
NM_001278055.2:c.6863T>C