Canonical Allele Identifier: PA2825738509
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2759838
ClinVar RCV Id: RCV003507202

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123538.1:p.Arg1056Thr
CA363632096
NM_001130066.2:c.3167G>C
CA2697553287
NM_001130066.2:c.3167_3168delinsCA