Canonical Allele Identifier: PA645437531
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 260399
ClinVar RCV Id: RCV000243536 RCV000710207 RCV001082626 RCV001112102 RCV001848029 RCV003891946
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala2510Thr
CA6910891
NM_014363.6:c.7528G>A