Canonical Allele Identifier: PA2826577531
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 884138
ClinVar RCV Id: RCV001115054 RCV001247856 RCV001847161 RCV001269831 RCV003387965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ser2318Leu
CA6910914
NM_001278055.2:c.6953C>T