Allele Registry

Canonical Allele Identifier: PA2826576197

Gene: SACS HGNC NCBI

ClinVar Allele:

327819

ClinVar RCV:

RCV000375874

RCV002520870

ClinVar Variation:

311560

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Pro400Leu	CA6911879 NM_001278055.2:c.1199C>T