Allele Registry

Canonical Allele Identifier: PA891856194

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000701275

RCV001274916

ClinVar Variation:

578310

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ser4302Tyr	CA387506545 NM_014363.6:c.12905C>A