Allele Registry

Canonical Allele Identifier: PA2826012940

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059403

RCV000818870

RCV002054912

ClinVar Variation:

68530

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Leu1179Pro	CA284925 NM_001165964.3:c.3536T>C