Allele Registry

Canonical Allele Identifier: PA2827786050

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180947

RCV000493892

ClinVar Variation:

189991

429551

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Met1320Ile	CA303495 NM_001353958.2:c.3960G>A CA59769826 NM_001353958.2:c.3960G>C CA349050717 NM_001353958.2:c.3960G>T