Allele Registry

Canonical Allele Identifier: PA1139722227

Gene: SYNGAP1 HGNC NCBI

ClinVar Allele:

859525

ClinVar RCV:

RCV001092255

ClinVar Variation:

872011

HGVS (amino-acid)	Matching Registered Transcripts
NP_006763.2:p.Lys705Asn	CA363622837 NM_006772.3:c.2115G>C CA363622839 NM_006772.3:c.2115G>T