ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915983064
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
809920
ClinVar RCV Id:
RCV000998585
RCV001858883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006763.2:p.Ala301Thr
CA363684928
NM_006772.3:c.901G>A