Allele Registry

Canonical Allele Identifier: PA2828476182

Gene: SCN2A HGNC NCBI

ClinVar RCV:

RCV001777077

RCV003772129

ClinVar Variation:

1321098

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Gln1531His	CA349036240 NM_001371247.1:c.4593A>T CA349036241 NM_001371247.1:c.4593A>C