ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825738553
Gene: SYNGAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130530
ClinVar RCV Id:
RCV000118570
RCV000231703
RCV000433344
RCV002313922
RCV004549587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123538.1:p.Ile1101Thr
CA155640
NM_001130066.2:c.3302T>C