Allele Registry

Canonical Allele Identifier: PA2826578099

Gene: SACS HGNC NCBI

ClinVar Allele:

335684

ClinVar RCV:

RCV000388007

RCV003588614

ClinVar Variation:

311514

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Pro3149Leu	CA6910546 NM_001278055.2:c.9446C>T