Allele Registry

Canonical Allele Identifier: PA110941

Gene: SYNGAP1 HGNC NCBI

ClinVar Allele:

49898

ClinVar RCV:

RCV000034348

RCV000254832

RCV000623832

RCV001265525

RCV002273941

RCV003156067

ClinVar Variation:

41462

HGVS (amino-acid)	Matching Registered Transcripts
NP_006763.2:p.Pro562Leu	CA130846 NM_006772.3:c.1685C>T