Allele Registry

Canonical Allele Identifier: PA658808515

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000596432

RCV002532604

RCV002532605

ClinVar Variation:

501595

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ile419Val	CA6911942 NM_014363.6:c.1255A>G