ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825738230
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2585497
ClinVar RCV Id:
RCV003338113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Asn729Ser
CA363623493
NM_001130066.2:c.2186A>G