Allele Registry

Canonical Allele Identifier: PA2827789021

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187753

421307

ClinVar RCV:

RCV000180947

RCV000493892

ClinVar Variation:

189991

429551

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Met1319Ile	CA303495 NM_001353960.2:c.3957G>A CA59769826 NM_001353960.2:c.3957G>C CA349050717 NM_001353960.2:c.3957G>T