ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471748
Gene: SYNGAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000482286
ClinVar Variation:
422233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006763.2:p.Leu588His
CA16618281
NM_006772.3:c.1763T>A