Allele Registry

Canonical Allele Identifier: PA658664630

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000538701

RCV000765122

RCV002528313

RCV003482278

ClinVar Variation:

458272

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg2214Cys	CA6911049 NM_014363.6:c.6640C>T