Canonical Allele Identifier: PA645437478
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311537
ClinVar RCV Id: RCV000312333 RCV000995036 RCV002522277
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Val1978Ile
CA6911169
NM_014363.6:c.5932G>A