Allele Registry

Canonical Allele Identifier: PA658664617

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000538763

RCV001829567

ClinVar Variation:

458269

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ile2146Val	CA387521847 NM_014363.6:c.6436A>G