Allele Registry

Canonical Allele Identifier: PA2827754929

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636358

RCV001956143

ClinVar Variation:

530478

1457986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Gly1757Arg	CA349068320 NM_001353948.2:c.5269G>C CA349068321 NM_001353948.2:c.5269G>A