Canonical Allele Identifier: PA2826577259
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448215
ClinVar RCV Id: RCV001080771 RCV000517696 RCV001111736 RCV001848895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg1965Ser
CA6911101
NM_001278055.2:c.5895A>C
CA387523380
NM_001278055.2:c.5895A>T