Canonical Allele Identifier: PA2826576273
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311558
ClinVar RCV Id: RCV000306464 RCV001288709 RCV001400059 RCV001848105
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Cys491Gly
CA6911820
NM_001278055.2:c.1471T>G