ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471519
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375528
ClinVar RCV Id:
RCV000417030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006763.2:p.Arg170Gln
CA16044319
NM_006772.3:c.509G>A