Allele Registry

Canonical Allele Identifier: PA645437234

Gene: SACS HGNC NCBI

ClinVar Allele:

241631

ClinVar RCV:

RCV000234475

RCV000250154

RCV000624974

RCV000676368

RCV001847973

ClinVar Variation:

240895

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ala694Thr	CA6911796 NM_014363.6:c.2080G>A