Allele Registry

Canonical Allele Identifier: PA658664589

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000536906

RCV000578242

RCV001848923

ClinVar Variation:

458265

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asp1582Asn	CA387527870 NM_014363.6:c.4744G>A