Allele Registry

Canonical Allele Identifier: PA645437257

Gene: SACS HGNC NCBI

ClinVar Allele:

241627

ClinVar RCV:

RCV000232090

RCV000988965

ClinVar Variation:

240899

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Leu1131Phe	CA6911531 NM_014363.6:c.3391C>T