Allele Registry

Canonical Allele Identifier: PA2826577123

Gene: SACS HGNC NCBI

ClinVar Allele:

437952

ClinVar RCV:

RCV000513129

RCV001275193

RCV002527402

ClinVar Variation:

444312

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Thr1764Met	CA6911204 NM_001278055.2:c.5291C>T