Allele Registry

Canonical Allele Identifier: PA658664681

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000516989

RCV001829476

RCV002525076

ClinVar Variation:

448228

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Leu3058Arg	CA6910654 NM_014363.6:c.9173T>G