Canonical Allele Identifier: PA645437476
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311538
ClinVar RCV Id: RCV000350600 RCV000550324
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Lys1977Arg
CA6911170
NM_014363.6:c.5930A>G