Allele Registry

Canonical Allele Identifier: PA645437260

Gene: SACS HGNC NCBI

ClinVar Allele:

334087

ClinVar RCV:

RCV000283262

RCV002522278

ClinVar Variation:

311549

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ala1182Val	CA6911512 NM_014363.6:c.3545C>T