Allele Registry

Canonical Allele Identifier: PA2580354436

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV002511232

ClinVar Variation:

1878731

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Pro1380Arg	CA387532352 NM_014363.6:c.4139C>G