Allele Registry

Canonical Allele Identifier: PA2580354839

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV002632656

ClinVar Variation:

2186068

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Leu3304Phe	CA387513391 NM_014363.6:c.9910C>T