ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741932891
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2837618
ClinVar RCV Id:
RCV003616602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006763.2:p.Asp720Asn
CA363623222
NM_006772.3:c.2158G>A