Allele Registry

Canonical Allele Identifier: PA2826578111

Gene: SACS HGNC NCBI

ClinVar RCV:

RCV003066397

RCV004070165

ClinVar Variation:

2138758

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Met3160Leu	CA6910540 NM_001278055.2:c.9478A>C CA387513373 NM_001278055.2:c.9478A>T