Allele Registry

Canonical Allele Identifier: PA658664473

Gene: SACS HGNC NCBI

ClinVar Allele:

441632

ClinVar RCV:

RCV000518000

RCV001835834

RCV002527517

ClinVar Variation:

448193

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Pro45Leu	CA13805936 NM_014363.6:c.134C>T