Allele Registry

Canonical Allele Identifier: PA2826577284

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV003010209

ClinVar Variation:

2094171

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Val2002Ile	CA6911081 NM_001278055.2:c.6004G>A