Allele Registry

Canonical Allele Identifier: PA916036377

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187809

ClinVar RCV:

RCV000180869

RCV001071061

ClinVar Variation:

189917

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Met785Val	CA303300 NM_001353948.2:c.2353A>G