Allele Registry

Canonical Allele Identifier: PA658664679

Gene: SACS HGNC NCBI

ClinVar Variation Id: 448226

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg2991Cys	CA6910685 NM_014363.6:c.8971C>T