Allele Registry

Canonical Allele Identifier: PA658664521

Gene: SACS HGNC NCBI

ClinVar Allele:

441624

ClinVar RCV:

RCV000518207

RCV001083870

RCV001113726

RCV001848890

RCV002525071

ClinVar Variation:

448197

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ala629Thr	CA6911833 NM_014363.6:c.1885G>A