Canonical Allele Identifier: PA1139699849
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 550523
ClinVar RCV Id: RCV000665289

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu978del
CA658823482
NM_001278055.2:c.2931_2933del