Allele Registry

Canonical Allele Identifier: PA221575

Gene: SCN1A HGNC NCBI

ClinVar Allele:

99544

ClinVar RCV:

RCV000188894

RCV000686144

ClinVar Variation:

93640

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Val906Met	CA221572 NM_001165963.4:c.2716G>A