Allele Registry

Canonical Allele Identifier: PA2826578108

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV002632656

ClinVar Variation:

2186068

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Leu3157Phe	CA387513391 NM_001278055.2:c.9469C>T