Canonical Allele Identifier: PA2580354875
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2316774
ClinVar RCV Id: RCV002919608

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ser3506Arg
CA387512033
NM_014363.6:c.10518T>G
CA387512034
NM_014363.6:c.10518T>A
CA387512040
NM_014363.6:c.10516A>C