Allele Registry

Canonical Allele Identifier: PA2827780750

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188992

RCV000478480

RCV000806458

ClinVar Variation:

206858

421189

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Phe1695Leu	CA317577 NM_001353955.2:c.5085T>A CA16617283 NM_001353955.2:c.5085T>G CA349069109 NM_001353955.2:c.5083T>C