Allele Registry

Canonical Allele Identifier: PA2827788451

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180835

ClinVar Variation:

189882

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Arg917Pro	CA303197 NM_001353960.2:c.2750G>C