Canonical Allele Identifier: PA658664652
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448223
ClinVar RCV Id: RCV000516833 RCV000765120 RCV002525074
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Gly2772Ala
CA6910788
NM_014363.6:c.8315G>C