Canonical Allele Identifier: PA2580354575
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2161923
ClinVar RCV Id: RCV003078817
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Val2094Asp
CA387523501
NM_014363.6:c.6281T>A