Allele Registry

Canonical Allele Identifier: PA2741944972

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV003286525

ClinVar Variation:

2537068

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Cys1823Ser	CA387525601 NM_014363.6:c.5468G>C CA387525603 NM_014363.6:c.5467T>A