Canonical Allele Identifier: PA2826577361
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 240901
ClinVar RCV Id: RCV000260358 RCV000516875 RCV001081244 RCV001847976 RCV003929986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu2114Ile
CA6911032
NM_001278055.2:c.6340C>A