Allele Registry

Canonical Allele Identifier: PA2827789750

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000636358

RCV001956143

ClinVar Variation:

530478

1457986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Gly1728Arg	CA349068320 NM_001353960.2:c.5182G>C CA349068321 NM_001353960.2:c.5182G>A