ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825738618
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1026146
ClinVar RCV Id:
RCV001326560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Glu1183Lys
CA3759077
NM_001130066.2:c.3547G>A