ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645471523
Gene: SYNGAP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006763.2:p.Trp308Arg
NM_006772.3:c.922T>A
NM_006772.3:c.922T>C