Canonical Allele Identifier: PA2826577277
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 649183
ClinVar RCV Id: RCV000804057 RCV001830740 RCV004028161
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Gln1990Glu
CA6911086
NM_001278055.2:c.5968C>G