ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580351000
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2122760
ClinVar RCV Id:
RCV003047028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006763.2:p.Met289Val
CA363684626
NM_006772.3:c.865A>G