ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825737873
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1721897
ClinVar RCV Id:
RCV002302246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Tyr291Cys
CA363684670
NM_001130066.2:c.872A>G