Allele Registry

Canonical Allele Identifier: PA2827754578

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059528

RCV001854246

RCV003992176

ClinVar Variation:

68648

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ala1685Val	CA266120 NM_001353948.2:c.5054C>T