Allele Registry

Canonical Allele Identifier: PA645437243

Gene: SACS HGNC NCBI

ClinVar Variation Id: 311555

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Glu833Lys	CA6911678 NM_014363.6:c.2497G>A