Allele Registry

Canonical Allele Identifier: PA094484

Gene: SCN2A HGNC NCBI

ClinVar RCV:

RCV000013736

RCV001851831

RCV002319420

ClinVar Variation:

12876

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035232.1:p.Leu1330Phe	CA122768 NM_001040142.2:c.3988C>T