Allele Registry

Canonical Allele Identifier: PA2827787798

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059380

RCV002345371

RCV002514305

ClinVar Variation:

68508

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Phe403Leu	CA284874 NM_001353960.2:c.1207T>C CA349070974 NM_001353960.2:c.1209T>G CA349070975 NM_001353960.2:c.1209T>A