Allele Registry

Canonical Allele Identifier: PA2826579023

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000254363

RCV000488235

RCV000515968

RCV000674768

RCV001082378

ClinVar Variation:

193707

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Asn4426His	CA239310 NM_001278055.2:c.13276A>C