ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825738323
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1395978
ClinVar RCV Id:
RCV001887316
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Val827Ala
CA363625656
NM_001130066.2:c.2480T>C