Canonical Allele Identifier: PA253512
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 5514
ClinVar RCV Id: RCV000005849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala3927Pro
CA253511
NM_001278055.2:c.11779G>C