Allele Registry

Canonical Allele Identifier: PA2573259251

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV001911105

RCV003365510

ClinVar Variation:

1391884

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asp1346His	CA6911442 NM_014363.6:c.4036G>C