Allele Registry

Canonical Allele Identifier: PA2826576912

Gene: SACS HGNC NCBI

ClinVar Allele:

429482

ClinVar RCV:

RCV000503684

RCV000551798

RCV000765124

RCV001848875

ClinVar Variation:

436632

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Glu1487Gln	CA6911327 NM_001278055.2:c.4459G>C