Canonical Allele Identifier: PA2826578818
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1081795
ClinVar RCV Id: RCV001397869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Pro4131Leu
CA6910072
NM_001278055.2:c.12392C>T