ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645471760
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_006763.2:p.Arg716Gln
CA16611900
NM_006772.3:c.2147G>A