Allele Registry

Canonical Allele Identifier: PA2829675856

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636329

RCV001091664

ClinVar Variation:

530454

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Leu1340Pro	CA349050683 NM_006920.6:c.4019T>C