Allele Registry

Canonical Allele Identifier: PA094662

Gene: SACS HGNC NCBI

ClinVar Allele:

20558

ClinVar RCV:

RCV000005854

ClinVar Variation:

5519

HGVS (amino-acid)	Matching Registered Transcripts
NP_055178.3:p.Trp3248Arg	CA253516 NM_014363.6:c.9742T>C CA387513757 NM_014363.6:c.9742T>A