Canonical Allele Identifier: PA2573259329
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1409237
ClinVar RCV Id: RCV001913536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg3048His
CA6910659
NM_014363.6:c.9143G>A