Allele Registry

Canonical Allele Identifier: PA2826578013

Gene: SACS HGNC NCBI

ClinVar Allele:

441595

ClinVar RCV:

RCV000518073

RCV000560872

RCV001113533

ClinVar Variation:

448229

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Arg3037Cys	CA6910606 NM_001278055.2:c.9109C>T