Canonical Allele Identifier: PA1139722373
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 939935
ClinVar RCV Id: RCV001209419
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006763.2:p.Glu831Asp
CA363625478
NM_006772.3:c.2493G>C
CA363625479
NM_006772.3:c.2493G>T