Allele Registry

Canonical Allele Identifier: PA2826576726

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV001911105

RCV003365510

ClinVar Variation:

1391884

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Asp1199His	CA6911442 NM_001278055.2:c.3595G>C