Canonical Allele Identifier: PA2825738122
Gene: SYNGAP1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123538.1:p.Leu588His
CA16618281
NM_001130066.2:c.1763T>A