Allele Registry

Canonical Allele Identifier: PA2580354586

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV003010209

ClinVar Variation:

2094171

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Val2149Ile	CA6911081 NM_014363.6:c.6445G>A