Canonical Allele Identifier: PA2826577391
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2150983
ClinVar RCV Id: RCV003072015
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Glu2152Asp
CA387520504
NM_001278055.2:c.6456A>T
CA387520505
NM_001278055.2:c.6456A>C