Allele Registry

Canonical Allele Identifier: PA2827779479

Gene: SCN1A HGNC NCBI

ClinVar Allele:

99544

ClinVar RCV:

RCV000188894

RCV000686144

ClinVar Variation:

93640

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Val894Met	CA221572 NM_001353955.2:c.2680G>A