Allele Registry

Canonical Allele Identifier: PA2827785807

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059403

RCV000818870

RCV002054912

ClinVar Variation:

68530

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Leu1179Pro	CA284925 NM_001353958.2:c.3536T>C