Allele Registry

Canonical Allele Identifier: PA2573259271

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV001912874

ClinVar Variation:

1401464

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Cys1823Phe	CA246659103 NM_014363.6:c.5468G>T