Allele Registry

Canonical Allele Identifier: PA253517

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000005854

ClinVar Variation:

5519

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Trp3101Arg	CA253516 NM_001278055.2:c.9301T>C CA387513757 NM_001278055.2:c.9301T>A