Allele Registry

Canonical Allele Identifier: PA645437696

Gene: SACS HGNC NCBI

ClinVar Allele:

237288

ClinVar RCV:

RCV000224626

RCV000251185

RCV000322346

RCV001079358

RCV001847950

ClinVar Variation:

235607

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asn4217Asp	CA6910119 NM_014363.6:c.12649A>G