Allele Registry

Canonical Allele Identifier: PA2826576143

Gene: SACS HGNC NCBI

ClinVar Allele:

334089

ClinVar RCV:

RCV000317718

RCV000464896

RCV000712962

RCV001848106

ClinVar Variation:

311562

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Pro341Leu	CA6911912 NM_001278055.2:c.1022C>T