Allele Registry

Canonical Allele Identifier: PA645437279

Gene: SACS HGNC NCBI

ClinVar Allele:

275105

ClinVar RCV:

RCV000333351

RCV001089050

RCV001782779

ClinVar Variation:

290868

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Pro1427Thr	CA6911409 NM_014363.6:c.4279C>A