Canonical Allele Identifier: PA2825737893
Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 975473
ClinVar RCV Id: RCV001252123
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123538.1:p.Glu310Asp
CA363685201
NM_001130066.2:c.930G>C
CA363685205
NM_001130066.2:c.930G>T