Allele Registry

Canonical Allele Identifier: PA658664678

Gene: SACS HGNC NCBI

ClinVar Allele:

441597

ClinVar RCV:

RCV000518535

RCV000765119

RCV001085517

RCV001644612

RCV001848898

ClinVar Variation:

448227

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Arg2991His	CA6910684 NM_014363.6:c.8972G>A