Allele Registry

Canonical Allele Identifier: PA916036461

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636437

RCV001384352

ClinVar Variation:

530535

1071810

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Glu954Asp	CA349061108 NM_001353948.2:c.2862G>C CA349061111 NM_001353948.2:c.2862G>T