Allele Registry

Canonical Allele Identifier: PA2827753205

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180947

RCV000493892

ClinVar Variation:

189991

429551

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met1348Ile	CA303495 NM_001353948.2:c.4044G>A CA59769826 NM_001353948.2:c.4044G>C CA349050717 NM_001353948.2:c.4044G>T