Allele Registry

Canonical Allele Identifier: PA645437299

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000354216

RCV000876841

RCV001848101

ClinVar Variation:

311541

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Thr1741Ile	CA6911277 NM_014363.6:c.5222C>T