Canonical Allele Identifier: PA2825738314
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 939935
ClinVar RCV Id: RCV001209419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123538.1:p.Glu817Asp
CA363625478
NM_001130066.2:c.2451G>C
CA363625479
NM_001130066.2:c.2451G>T