ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825738317
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2731331
ClinVar RCV Id:
RCV003508750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Leu821Met
CA363625539
NM_001130066.2:c.2461C>A