ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA209019
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212352
ClinVar RCV Id:
RCV000194683
RCV000864367
RCV002433871
RCV003430749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006763.2:p.Gly949Ser
CA209018
NM_006772.3:c.2845G>A