Allele Registry

Canonical Allele Identifier: PA658664663

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000530318

RCV001274928

RCV002525291

ClinVar Variation:

458276

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg2898His	CA6910731 NM_014363.6:c.8693G>A