Allele Registry

Canonical Allele Identifier: PA2828470587

Gene: SCN2A HGNC NCBI

ClinVar RCV:

RCV001961452

ClinVar Variation:

1469191

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358175.1:p.Met252Leu	CA349017953 NM_001371246.1:c.754A>C CA349017955 NM_001371246.1:c.754A>T