Canonical Allele Identifier: PA2826577068
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2043640
ClinVar RCV Id: RCV002913145
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu1694Pro
CA6911235
NM_001278055.2:c.5081T>C