Allele Registry

Canonical Allele Identifier: PA645437205

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV000392351

RCV000676373

RCV001083937

RCV001782775

RCV003957483

ClinVar Variation:

287301

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Ile356Leu	CA6911977 NM_014363.6:c.1066A>C CA387550413 NM_014363.6:c.1066A>T