Allele Registry

Canonical Allele Identifier: PA2826576730

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000194599

RCV000515329

RCV000710206

RCV001082339

RCV001847803

RCV003937553

ClinVar Variation:

193706

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Met1212Thr	CA208864 NM_001278055.2:c.3635T>C