ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825738105
Gene: SYNGAP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
406862
ClinVar RCV:
RCV000483715
RCV000656412
RCV001260776
ClinVar Variation:
421734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Arg573Trp
CA16618280
NM_001130066.2:c.1717C>T