Allele Registry

Canonical Allele Identifier: PA2741945035

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV003752203

ClinVar Variation:

2844642

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Val2179Ile	CA246657978 NM_014363.6:c.6535G>A