Allele Registry

Canonical Allele Identifier: PA2827770070

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000480519

ClinVar Variation:

421106

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Tyr545His	CA16617309 NM_001353951.2:c.1633T>C