Allele Registry

Canonical Allele Identifier: PA658664679

Gene: SACS HGNC NCBI

ClinVar Allele:

441598

ClinVar RCV:

RCV000517800

RCV001834673

RCV003588642

ClinVar Variation:

448226

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg2991Cys	CA6910685 NM_014363.6:c.8971C>T