Allele Registry

Canonical Allele Identifier: PA239311

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000254363

RCV000488235

RCV000515968

RCV000674768

RCV001082378

ClinVar Variation:

193707

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Asn4573His	CA239310 NM_014363.6:c.13717A>C