ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499274828
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1204186
ClinVar RCV Id:
RCV001570465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006763.2:p.Arg279Trp
CA363684399
NM_006772.3:c.835C>T