Canonical Allele Identifier: PA2826578911
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2161974
ClinVar RCV Id: RCV003078843
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Glu4264Asp
CA6909997
NM_001278055.2:c.12792A>C
CA387505709
NM_001278055.2:c.12792A>T