Canonical Allele Identifier: PA2826577719
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 426709
ClinVar RCV Id: RCV000489599
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Gly2610Arg
CA387517003
NM_001278055.2:c.7828G>C
CA387517004
NM_001278055.2:c.7828G>A