ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825738221
Gene: SYNGAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
395101
ClinVar RCV:
RCV000459972
ClinVar Variation:
411585
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Arg716Gln
CA16611900
NM_001130066.2:c.2147G>A