Allele Registry

Canonical Allele Identifier: PA2826576455

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000173860

RCV000400126

RCV001085181

ClinVar Variation:

193709

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Glu734Asp	CA239314 NM_001278055.2:c.2202G>C CA387538450 NM_001278055.2:c.2202G>T