Allele Registry

Canonical Allele Identifier: PA2580354834

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV002938046

RCV003170586

ClinVar Variation:

2053217

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Thr3274Ser	CA6910558 NM_014363.6:c.9821C>G CA387513581 NM_014363.6:c.9820A>T