Canonical Allele Identifier: PA658831533
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 550523
ClinVar RCV Id: RCV000665289

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu1125del
CA658823482
NM_014363.6:c.3372_3374del