Allele Registry

Canonical Allele Identifier: PA645437232

Gene: SACS HGNC NCBI

ClinVar Allele:

327819

ClinVar RCV:

RCV000375874

RCV002520870

ClinVar Variation:

311560

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Pro547Leu	CA6911879 NM_014363.6:c.1640C>T