Allele Registry

Canonical Allele Identifier: PA2827780659

Gene: SCN1A HGNC NCBI

ClinVar Allele:

421300

ClinVar RCV:

RCV000493826

RCV001865550

ClinVar Variation:

429924

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Leu1648Pro	CA349069907 NM_001353955.2:c.4943T>C