Allele Registry

Canonical Allele Identifier: PA2826578083

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV002938046

RCV003170586

ClinVar Variation:

2053217

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Thr3127Ser	CA6910558 NM_001278055.2:c.9380C>G CA387513581 NM_001278055.2:c.9379A>T