Allele Registry

Canonical Allele Identifier: PA2827776046

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000480519

ClinVar Variation:

421106

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Tyr544His	CA16617309 NM_001353954.2:c.1630T>C