Allele Registry

Canonical Allele Identifier: PA3057565945

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV004997712

ClinVar Variation:

3571920

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Pro1378Ser	CA387532380 NM_014363.6:c.4132C>T