Canonical Allele Identifier: PA645437301
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311540
ClinVar RCV Id: RCV000297039 RCV002520867
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.His1768Tyr
CA6911269
NM_014363.6:c.5302C>T