Canonical Allele Identifier: PA094662
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 5519
ClinVar RCV Id: RCV000005854
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Trp3248Arg
CA253516
NM_014363.6:c.9742T>C
CA387513757
NM_014363.6:c.9742T>A