ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825738597
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225899
ClinVar RCV Id:
RCV000211105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Ser1151Leu
CA10576135
NM_001130066.2:c.3452C>T