ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580351001
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_006763.2:p.Tyr291Cys
CA363684670
NM_006772.3:c.872A>G