Allele Registry

Canonical Allele Identifier: PA658664587

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000518100

RCV000547323

RCV001275196

ClinVar Variation:

448204

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ile1538Val	CA6911368 NM_014363.6:c.4612A>G