Canonical Allele Identifier: PA2580354584
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1945689
ClinVar RCV Id: RCV002667312

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp2138Val
CA6911085
NM_014363.6:c.6413A>T