Allele Registry

Canonical Allele Identifier: PA916014067

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000992794

ClinVar Variation:

805300

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Leu2145Phe	CA387521851 NM_014363.6:c.6435G>T CA387521852 NM_014363.6:c.6435G>C