Allele Registry

Canonical Allele Identifier: PA2827775022

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187706

ClinVar RCV:

RCV000180919

RCV003480074

ClinVar Variation:

189965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340881.1:p.Leu1828Val	CA303429 NM_001353952.2:c.5482C>G