Allele Registry

Canonical Allele Identifier: PA645437228

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000372498

RCV001060561

ClinVar Variation:

311563

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Leu426Phe	CA6911935 NM_014363.6:c.1278A>T CA387549328 NM_014363.6:c.1278A>C