Allele Registry

Canonical Allele Identifier: PA645437683

Gene: SACS HGNC NCBI

ClinVar Allele:

327767

ClinVar RCV:

RCV000385354

RCV003750783

ClinVar Variation:

311505

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Lys3931Arg	CA6910218 NM_014363.6:c.11792A>G